Genomics England

Paediatric disorders (Version: )

Relevant disorders: Congenital malformation and dysmorphism syndromes - microarray and sequencing, Congenital malformation and dysmorphism syndromes, R27

This panel contains these 13 panels:

DDG2P
Intellectual disability
Early onset or syndromic epilepsy
Likely inborn error of metabolism - targeted testing not possible
Skeletal dysplasia
Monogenic hearing loss
Paediatric disorders - additional genes
Clefting
Neurological ciliopathies
Renal ciliopathies
Ophthalmological ciliopathies
Limb disorders
Skeletal ciliopathies

Signed off date: 6 Dec 2023

Panel types: GMS Rare Disease Virtual, Super Panel, GMS signed-off

See this panel in PanelApp

2785 unique green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	AAAS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AAAS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AARS Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	AARS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	AARS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	AARS2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AASS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AASS Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AASS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABAT Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABAT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABAT Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABAT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCA1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCA2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCB11 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCB11 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCB4 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ABCB7 Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ABCB7 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Other	N/A
Green	ABCC6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCC9 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ABCC9 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	watchlist_moi
Green	ABCC9 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ABCD1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	gene-therapy-trial
Green	ABCD1 Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ABCD1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ABCD4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCD4 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCD4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCG5 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCG8 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABHD12 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABHD12 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABHD16A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABHD16A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABHD5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABHD5 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABHD5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABL1 Paediatric disorders - additional genes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	missense
Green	ABL1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ACAD8 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACAD9 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACAD9 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACAD9 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADM Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADM Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADM DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADS DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ACADS Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ACADSB Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADVL Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADVL DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACAN DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ACAN Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ACAT1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACAT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACBD5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACE Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACER3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACER3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACO2 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ACO2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACO2 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ACOX1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACOX1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACOX1 Early onset or syndromic epilepsy	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	ACOX1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist_moi
Green	ACP5 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACP5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACSF3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACSL4 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ACSL4 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Skewed X-inactivation
Green	ACTA1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ACTA2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ACTB Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ACTB DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ACTB Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ACTC1 Paediatric disorders - additional genes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ACTG1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ACTG1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ACTG1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ACTG1 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ACTG2 Paediatric disorders - additional genes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ACTL6A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	ACTL6B Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ACTL6B Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACTL6B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACVR1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ACVR1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ACVR2B Paediatric disorders - additional genes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ACY1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACY1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACY1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAM22 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAM22 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAMTS10 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAMTS17 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAMTS18 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ADAMTS19 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAMTS9 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	gene-checked
Green	ADAMTSL2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAMTSL2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAR Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ADAR Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAR DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ADAR Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ADARB1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADARB1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAT3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADCY5 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ADD1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ADD3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADGRG1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADGRG1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADGRG1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADGRG6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADGRV1 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADK Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADNP Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ADNP DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ADPRHL2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ADPRHL2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ADSL Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADSL Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADSL Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADSL DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	AFF2 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	AFF2 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Other	nucleotide-repeat-expansion
Green	AFF3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	missense
Green	AFF3 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	missense
Green	AFF3 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	AFF3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	AFF4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	AFF4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	AFG3L2 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	AGA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGA Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGK DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGK Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGL Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGL DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGO1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	AGO1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	AGO2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	AGPS DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	AGPS Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGPS Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGT Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGTPBP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGTR1 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGXT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGXT Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AHCY Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	AHCY Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	AHDC1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	AHDC1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	AHI1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AHI1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AHI1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AHI1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AHI1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AIFM1 Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	AIFM1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Other	N/A
Green	AIFM1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	AIFM1 Monogenic hearing loss	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	AIMP1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AIMP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AIMP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AIPL1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AIRE DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AK2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AKR1D1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AKR1D1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AKT1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	mosaicism
Green	AKT2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	AKT3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	mosaicism
Green	AKT3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	mosaicism
Green	AKT3 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ALAD Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALAS2 Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ALDH18A1 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH18A1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH18A1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH1A2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ALDH1A3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH3A2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH3A2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH3A2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH4A1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH4A1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH4A1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH5A1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH5A1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH5A1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH5A1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH6A1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH7A1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH7A1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH7A1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH7A1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	ALDOA DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ALDOA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDOB Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG11 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG11 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG11 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG11 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG12 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG12 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG12 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG12 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG13 Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ALG13 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ALG13 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Other	N/A
Green	ALG14 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG14 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG3 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG6 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG6 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG8 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG8 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG9 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG9 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG9 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG9 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG9 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALKBH8 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALKBH8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALKBH8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALMS1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALMS1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALMS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALMS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALMS1 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALPL Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	drug-indication
Green	ALPL DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ALPL Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	ALPL Skeletal dysplasia	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	ALS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALX1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALX1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALX3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALX3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALX4 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ALX4 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	AMACR Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMER1 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	AMER1 Skeletal dysplasia	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	AMER1 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	AMER1 Clefting	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	AMN Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMOTL1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	gene-checked
Green	AMPD2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMPD2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMPD2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMT Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMT Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANAPC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANK2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ANK3 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ANKH Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ANKH DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ANKRD11 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ANKRD11 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ANKRD11 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ANKRD11 Clefting	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ANKRD11 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ANKRD17 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ANKRD17 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ANKRD26 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ANKS6 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANO10 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANO5 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	ANO5 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ANOS1 Paediatric disorders - additional genes	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ANTXR1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANTXR2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP1G1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	AP1G1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	AP1G1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	AP1S1 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP1S1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP1S2 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	AP1S2 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	AP2M1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	AP2M1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	missense
Green	AP2M1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	AP2S1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	AP3B1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP3B2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP3B2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP3B2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4B1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4B1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4E1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4E1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4M1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4M1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4S1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4S1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APC2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APC2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APC2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APOA1 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	APOA5 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	APOB Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	APOC2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APOE Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	APOPT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	APOPT1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	APOPT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	APRT Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APTX DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APTX Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AR DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ARCN1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ARCN1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARCN1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ARF1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARF1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARF1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ARF3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	gene-checked, de novo
Green	ARFGEF1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARFGEF1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARFGEF1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ARFGEF2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARFGEF2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARFGEF2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARG1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARG1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARG1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARG1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARHGAP29 Clefting	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	ARHGAP31 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ARHGAP31 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ARHGAP31 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARHGAP31 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARHGAP35 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	ARHGEF9 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ARHGEF9 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ARHGEF9 Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ARID1A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARID1A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ARID1B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARID1B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ARID1B Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARID2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ARID2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ARL13B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL13B Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL13B Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL13B Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL3 Ophthalmological ciliopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ARL3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ARL6 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL6 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL6 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL6 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARMC4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ARMC9 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARMC9 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARMC9 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARMC9 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARPC4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ARSA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSB Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSB Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSE Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	ARSE Skeletal dysplasia	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	ARSE DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	ARSE Limb disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	ARSE Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	ARV1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARV1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARX Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	nucleotide-repeat-expansion
Green	ARX Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ARX DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ASAH1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASAH1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASAH1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASAH1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASCC1 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASH1L Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ASH1L DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ASH1L Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ASL Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASL Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASL DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASNS Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASNS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASNS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASPA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASPA Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASPA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASPA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASPH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASPM Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASPM DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASS1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASXL1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ASXL1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ASXL1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ASXL1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ASXL1 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ASXL2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ASXL2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ASXL2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ASXL3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ASXL3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ASXL3 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATAD1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	ATAD3A Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ATAD3A DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ATAD3A Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ATG7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATG7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATIC Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATIC Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATIC DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATL1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATM DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATM Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATN1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	ATN1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	ATN1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ATN1_CAG Early onset or syndromic epilepsy STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATP13A2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP13A2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP13A2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP1A1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP1A1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP1A1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ATP1A2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP1A2 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ATP1A2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP1A3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATP1A3 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATP1A3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ATP2B1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP2B1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP5A1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	new-gene-name
Green	ATP5A1 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ATP5D DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	new-gene-name
Green	ATP5D Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ATP5G3 Likely inborn error of metabolism - targeted testing not possible	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	ATP5O Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ATP5O Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ATP6AP1 Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ATP6AP2 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ATP6V0A1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATP6V0A1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ATP6V0A1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	watchlist_moi
Green	ATP6V0A2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP6V0A2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP6V0A2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP6V0A2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP6V0C DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP6V1A DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	ATP6V1A Early onset or syndromic epilepsy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ATP6V1A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP6V1B1 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP6V1B1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP6V1B2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ATP6V1B2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATP6V1B2 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP6V1E1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ATP7A Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ATP7A Skeletal dysplasia	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ATP7A DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ATP7A Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ATP7A Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ATP7B Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP8A2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP8B1 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ATP8B1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP9A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP9A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATPAF2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATR DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATR Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATRX Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ATRX Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ATRX DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	AUH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AUH Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AUH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AUTS2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	AUTS2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	B3GALNT2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GALNT2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GALNT2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GALT6 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GALT6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GALT6 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GAT3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GAT3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GLCT Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GLCT Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GLCT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GLCT Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALNT1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALNT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALT1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALT7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALT7 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALT7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALT7 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B9D1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B9D2 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B9D2 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B9D2 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B9D2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BAAT Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BANF1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	BAP1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BAP1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	BAP1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BBS1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS1 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS10 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS10 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS10 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS10 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS10 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS10 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS12 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS12 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS12 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS12 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS12 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS12 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS2 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS2 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS2 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS4 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS4 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS4 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS4 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS5 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS5 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS5 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS5 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS7 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS7 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS7 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS7 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS9 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS9 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS9 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS9 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS9 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS9 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCAP31 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	BCAP31 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	BCAS3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCAS3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCAT2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	BCKDHA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDHA Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDHA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDHA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDHB Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDHB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDHB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDHB Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDK Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDK Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCL11A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BCL11A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BCL11B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BCL11B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BCOR Clefting	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	BCOR Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	BCOR DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	BCS1L DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCS1L Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCS1L Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCS1L Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCS1L Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BFSP2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	BGN DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	BHLHA9 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	BHLHA9 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BHLHA9 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BICD2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	BICRA DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BICRA Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BIN1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BLM DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BLM Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BLOC1S1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	BLOC1S6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BMP1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BMP2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	cnv
Green	BMP2 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	cnv
Green	BMP2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BMP2 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BMP4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BMP4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BMP4 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BMPER Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BMPER DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BMPR1B Limb disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	BMPR1B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BMPR1B Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	BNC2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BOLA3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BOLA3 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BOLA3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BOLA3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BPTF DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BPTF Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BRAF DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	BRAF Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BRAF Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	BRAT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRAT1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRAT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRCA1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRCA2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRCA2 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRD4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	BRD4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	BRF1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRF1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRIP1 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRIP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRPF1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BRPF1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BRSK2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	BRSK2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	BRWD3 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	BRWD3 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	BSCL2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BSCL2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BSND Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BSND DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BTD DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BTD Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BTD Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BTD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BUB1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BUB1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BUB1B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BUB1B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C11orf70 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name, gene-checked
Green	C12orf4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C12orf57 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C12orf57 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C12orf57 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	C12orf65 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C12orf65 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C12orf65 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C19orf12 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	C19orf70 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C1QBP Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C1QBP DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	C21orf2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C21orf2 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C21orf2 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C21orf2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C21orf59 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C2CD3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C2CD3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C2CD3 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C2CD3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C2CD3 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C2CD3 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C2orf69 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	C2orf69 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	C2orf71 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C4orf26 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C5orf42 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C5orf42 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C5orf42 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C5orf42 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C5orf42 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C5orf42 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C8orf37 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C8orf37 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	CA2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CA2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CA2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CA5A Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CA5A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CA8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CA8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CABP2 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1A Early onset or syndromic epilepsy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CACNA1A Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1B Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1C Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CACNA1C Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CACNA1C DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CACNA1D DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1D Early onset or syndromic epilepsy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	CACNA1D Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1E Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CACNA1E DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CACNA1E Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CACNA1G DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CACNA1G Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	CACNA1G Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	missense
Green	CACNA1I Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	CACNA1I Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	CACNA2D1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA2D2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CACNB4 Early onset or syndromic epilepsy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	Q4_23_demote_red, refuted
Green	CAD Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CAD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CAD DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CAMK2A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CAMK2A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist_moi
Green	CAMK2B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CAMK2B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CAMK2G DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CAMK4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	gene-checked
Green	CAMSAP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CAMTA1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CAMTA1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CANT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CANT1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CAPN15 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CAPRIN1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	CAPRIN1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	CAPRIN1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	gene-checked
Green	CARS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	CARS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	CARS2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CARS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CARS2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CASK DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	CASK Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	CASK Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	CASR Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CAT Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CBL DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CBL Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CBS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CBS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CBS Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CBY1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	CC2D1A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D1A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D2A Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D2A Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D2A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D2A Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D2A Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D2A Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D2A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D2A Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCBE1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCBE1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC103 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC114 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	CCDC115 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC115 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC151 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	CCDC22 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Other	N/A
Green	CCDC22 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CCDC32 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	CCDC32 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	CCDC39 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC40 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC47 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	CCDC47 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	CCDC50 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CCDC65 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC78 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CCDC8 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC82 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	CCDC88C DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC88C Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCND2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CCND2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CCND2 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	CCNO DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CD151 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDC14A Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDC42 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CDC42 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CDC45 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDC45 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDC6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDC6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDH1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CDH1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CDH11 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDH11 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDH2 Paediatric disorders - additional genes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CDH2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CDH2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CDH23 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDH23 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDH3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDH3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDK10 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDK13 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CDK13 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CDK19 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CDK19 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CDK19 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CDK5RAP2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDK5RAP2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDK8 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CDK8 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CDKL5 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	CDKL5 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	CDKL5 Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	CDKN1C Clefting	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	N/A	N/A
Green	CDKN1C DDG2P	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	N/A	N/A
Green	CDKN1C Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	N/A	N/A
Green	CDON DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CDON Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CDT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDT1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDX1 Paediatric disorders - additional genes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	CDX2 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	CEACAM16 Monogenic hearing loss	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CELF2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CELF2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	CELF2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CENPF Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CENPF Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CENPF Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CENPF Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CENPF DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CENPF Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CENPJ DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CENPJ Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP104 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP104 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP104 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP104 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP104 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP120 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP120 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP120 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP135 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP135 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP152 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP152 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP164 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP164 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP250 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP290 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP290 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP290 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP290 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP290 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP290 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP41 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP41 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP41 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP41 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP41 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP55 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP55 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP57 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP57 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP63 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP78 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP83 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP83 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP83 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP85L DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	CEP85L Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	CEP85L Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	CERS1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CFAP53 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CFC1 Paediatric disorders - additional genes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CFC1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CFL2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	CHAMP1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHAMP1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHCHD10 Likely inborn error of metabolism - targeted testing not possible	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHD1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHD2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHD2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHD2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHD3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CHD3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHD4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHD4 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHD4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHD5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHD5 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHD7 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHD7 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHD7 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHD7 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHD8 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHD8 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHKA Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHKA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHKA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHKB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHKB Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHM DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CHMP1A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHMP1A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHRDL1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CHRNA1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHRNA2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHRNA3 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHRNA3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHRNA4 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHRNA4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CHRNB1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CHRNB2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CHRNB2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHRNG Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHRNG DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST14 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST14 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST14 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST14 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST6 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHSY1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHSY1 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHSY1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHSY1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHUK DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CIB2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CIB2 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CIC Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CIC Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CIC DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CISD2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CISD2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CISD2 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CIT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CIT DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	CKAP2L DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CKAP2L Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CKAP2L Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLCN3 Early onset or syndromic epilepsy	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Other	N/A
Green	CLCN3 Intellectual disability	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Other	N/A
Green	CLCN3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CLCN4 Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	CLCN4 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	CLCN4 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Other	N/A
Green	CLCN5 Skeletal dysplasia	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CLCN6 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	de novo
Green	CLCN7 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CLCN7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLCNKB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLDN14 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLDN16 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLDN19 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLDN19 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	CLDN5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	CLDN5 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	CLDN9 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLMP DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN3 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN5 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN6 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN8 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN8 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	founder-effect
Green	CLP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	CLPB Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CLPB Early onset or syndromic epilepsy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CLPB Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CLPB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLPP DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	CLPP Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLPP Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLRN1 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLTC Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CLTC Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CLTC DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CNKSR2 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CNKSR2 Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	CNKSR2 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CNNM2 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CNNM2 Early onset or syndromic epilepsy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CNNM2 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CNNM2 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CNOT1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CNOT1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CNOT2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CNOT3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CNOT3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CNPY3 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CNPY3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CNTNAP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CNTNAP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CNTNAP2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CNTNAP2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CNTNAP2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COA6 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COA7 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COASY Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COASY DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COCH Monogenic hearing loss	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COG1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG4 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG4 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COG4 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	COG4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG5 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG6 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG7 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG7 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG8 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL10A1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	COL10A1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COL11A1 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL11A1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL11A1 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	COL11A1 Clefting	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL11A2 Clefting	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL11A2 Monogenic hearing loss	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL11A2 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	COL11A2 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL13A1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL18A1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL18A1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL1A1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	COL1A1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	COL1A2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	COL25A1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL27A1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL2A1 Clefting	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL2A1 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	COL2A1 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL2A1 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	COL2A1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	COL4A1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	COL4A1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	COL4A1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COL4A2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COL4A2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	COL4A2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	COL4A3 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL4A3BP DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	new-gene-name
Green	COL4A3BP Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	COL4A4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL4A5 Monogenic hearing loss	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	COL6A1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	COL6A2 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL6A3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL9A1 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL9A1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL9A1 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL9A1 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL9A2 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL9A2 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL9A2 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL9A3 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COL9A3 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	COLEC10 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COLEC10 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COLEC11 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COLEC11 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COLEC11 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COLEC11 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COMP Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	nucleotide-repeat-expansion
Green	COPB2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COPB2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	COPB2 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COQ2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ4 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ4 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ6 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ7 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ8A Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ8A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ8A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ8B Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ9 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ9 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ9 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX10 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	COX10 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX10 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX14 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX15 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX15 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX15 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX16 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	COX20 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX6A1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX6B1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX6B1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX7B DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	COX7B Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	CP Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPAMD8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPE Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPLX1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPLX1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPOX Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CPS1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPSF3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	CPT1A Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPT2 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CRADD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRB1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRB2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRB2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRB2 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRB2 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CREB3L1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CREBBP Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CREBBP DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CREBBP Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CREBBP Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CRELD1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CRLS1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRTAP Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRX DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CRYAA DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CRYBA1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CRYBB1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CRYBB2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CRYBB3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	CRYGC DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CRYM Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CSDE1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	CSF1R DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSGALNACT1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSGALNACT1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSNK1G1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	CSNK2A1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CSNK2A1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CSNK2B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CSNK2B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CSNK2B Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CSPP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSPP1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSPP1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSPP1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSPP1 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSPP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSPP1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSTA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSTB Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	nucleotide-repeat-expansion
Green	CSTB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	nucleotide-repeat-expansion
Green	CSTB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	Other	nucleotide-repeat-expansion
Green	CSTB_CCCCGCCCCGCG Early onset or syndromic epilepsy STR	BIALLELIC, autosomal or pseudoautosomal	N/A	STR
Green	CTBP1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	missense
Green	CTBP1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CTC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTCF DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CTCF Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CTCF Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CTDP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTDP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTH Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTNNA2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTNNA2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTNNA2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTNNB1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CTNNB1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CTNND1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CTNND1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CTNND1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CTNND2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	CTNS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTNS Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTR9 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	CTSA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSA Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSC Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSC Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSD Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSD DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSD Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSK DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSK Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSK Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTU2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTU2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTU2 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CUBN Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CUL3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CUL3 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CUL3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CUL4B Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CUL4B DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CUL4B Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CUL7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CUL7 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CUX1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CUX2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CUX2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CUX2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CWC27 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CWC27 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CWF19L1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CXorf56 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	Skewed X-inactivation, new-gene-name, gene-checked
Green	CYB5R3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYB5R3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	CYC1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYC1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYFIP2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CYFIP2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CYFIP2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CYP1B1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	CYP27A1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP27A1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP27B1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP2R1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP2U1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP7B1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	D2HGDH Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	D2HGDH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	D2HGDH Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DAG1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DAG1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	DARS Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	DARS DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	new-gene-name
Green	DARS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	DARS2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DARS2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DARS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DAW1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	DBH Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DBT Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DBT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DBT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DBT Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCAF17 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCC DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCDC2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCHS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCHS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCPS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCX DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	DCX Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	DCX Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	DCXR Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDB1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DDB1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	DDB2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDC DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDC Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDC Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDC Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDHD1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDHD2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDHD2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDOST DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDR2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDR2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	DDRGK1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX11 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX11 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX23 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	gene-checked
Green	DDX23 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	DDX3X DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	DDX3X Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	loss-of-function (truncating variants and curated list of variants)	N/A
Green	DDX3X Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	DDX59 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX59 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX59 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX59 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX59 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	DDX59 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX6 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	DDX6 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DEAF1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DEAF1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	DEAF1 Early onset or syndromic epilepsy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DEGS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DEGS1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DEGS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DENND5A Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DENND5A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DEPDC5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DEPDC5 Early onset or syndromic epilepsy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DEPDC5 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DFNA5 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	DFNB59 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	DGUOK Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR24 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR24 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR24 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR24 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHDDS Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DHDDS Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DHDDS DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	DHFR DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	DHFR Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHFR Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHODH Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHODH Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHODH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHODH Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHPS DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	DHPS Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHPS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHTKD1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHTKD1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHTKD1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHX30 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	DHX30 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DHX30 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DHX37 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DIAPH1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DIAPH1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DIAPH1 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DIS3L2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	non-coding-known-pathogenic, deletions
Green	DIS3L2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DIS3L2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DKC1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	DKC1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	DLAT Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLAT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLD Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLD DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLG3 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	DLG3 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	DLG4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DLG4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	microduplication
Green	DLG5 Renal ciliopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	gene-checked
Green	DLL1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DLL1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DLL3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLL3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLL4 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DLL4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DLL4 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DLL4 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DLX3 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DLX5 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DLX5 Limb disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DMD DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Skewed X-inactivation
Green	DMD Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	gene-therapy-trial, Skewed X-inactivation
Green	DMP1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DMP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DMPK_CTG Intellectual disability STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	DMPK_CTG Likely inborn error of metabolism - targeted testing not possible STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	DMPK_CTG DDG2P STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	DMXL2 Monogenic hearing loss	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DMXL2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DMXL2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNA2 Likely inborn error of metabolism - targeted testing not possible	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNAAF3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAAF4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAAF5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	DNAH5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAH9 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC12 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC12 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC12 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC19 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC19 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC5 Likely inborn error of metabolism - targeted testing not possible	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNM1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	DNM1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNM1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist_moi
Green	DNM1L Early onset or syndromic epilepsy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DNM1L Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	DNM1L DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	DNM1L Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DNM2 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DNMT1 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNMT3A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	DNMT3A Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNMT3A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DNMT3B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNMT3B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK6 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK6 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK6 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK7 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOHH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOHH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOLK DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	DOLK Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOLK Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOLK Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPAGT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPAGT1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPAGT1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPAGT1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPAGT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPF2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	DPF2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	dominant-negative
Green	DPH1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPH5 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPH5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPH5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPP6 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	deletions, Q4_23_demote_red, Q4_23_NHS_review, Q4_23_expert_review
Green	DPYD Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPYD Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPYD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	pharmacogenetics
Green	DPYS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPYS Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPYSL5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DPYSL5 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	DRC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DROSHA Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	gene-checked, locus-type-rna-micro
Green	DSG1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DSP DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	DSPP Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DSPP DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DSTYK DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DTYMK Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DTYMK Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DVL1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DVL1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	DVL1 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	DVL1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DVL2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	gene-checked
Green	DVL3 Clefting	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DVL3 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DVL3 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DVL3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	DYM Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYM DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYM Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYM Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYNC1H1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DYNC1H1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DYNC1H1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	DYNC1I2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYNC2H1 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYNC2H1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYNC2H1 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYNC2H1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYNC2H1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYNC2LI1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYNC2LI1 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYNC2LI1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYNC2LI1 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYRK1A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DYRK1A Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DYRK1A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EARS2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EARS2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EARS2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EBF3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EBF3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EBP Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	EBP Clefting	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	EBP Skeletal dysplasia	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	EBP Limb disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	EBP DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	EBP Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ECEL1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ECHS1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ECHS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ECM1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EDA DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	EDAR DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	EDEM3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EDEM3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EDN1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	EDN3 Monogenic hearing loss	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	EDNRA Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EDNRA DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	EDNRB DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EDNRB Monogenic hearing loss	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	EED Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EED Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EED DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	EEF1A2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	EEF1A2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EEF1A2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	EFEMP2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EFNB1 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	EFNB1 Clefting	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	EFTUD2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EFTUD2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EFTUD2 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EFTUD2 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EFTUD2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EFTUD2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EGR2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EHBP1L1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	EHMT1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EHMT1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EHMT1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EIF2AK2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	missense
Green	EIF2AK2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	EIF2AK3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2AK3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2AK3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B3 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B4 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B5 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2S3 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	EIF2S3 Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	EIF2S3 Clefting	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	EIF2S3 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	EIF3F DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF3F Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF3F Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF4A3 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF4A3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	nucleotide-repeat-expansion
Green	EIF4A3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	EIF5A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EIF5A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ELAC2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ELAC2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ELAC2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ELMO2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ELN DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ELOVL4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ELOVL4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ELP2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EMC1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	EMC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EMC10 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EMC10 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EMC10 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EMG1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	EML1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EML1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EMX2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ENO3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ENPP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ENPP1 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ENTPD1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ENTPD1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EOGT Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EOGT Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EOGT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EOGT Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EOGT Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EP300 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EP300 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EPCAM DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPG5 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPG5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPG5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPG5 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPG5 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPM2A Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPM2A Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPRS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	EPS8 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPS8L2 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERBB3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ERBB4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ERCC1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC4 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC6L2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC6L2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERF DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ERF Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ERLIN2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ESCO2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ESCO2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ESCO2 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ESCO2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ESCO2 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ESPN Monogenic hearing loss	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ESRRB Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFB Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFDH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFDH Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFDH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETHE1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETHE1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETHE1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETHE1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EVC Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EVC Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EVC Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EVC DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EVC2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EVC2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EVC2 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EVC2 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXOSC3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXOSC3 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXOSC3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	EXOSC9 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXPH5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXT1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EXT1 Likely inborn error of metabolism - targeted testing not possible	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EXT1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EXT2 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	EXT2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EXT2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	watchlist_moi
Green	EXT2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXT2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXTL3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXTL3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	EXTL3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EYA1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EYA1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EYA1 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EYA4 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EZH2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EZH2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EZH2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	FA2H Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAH Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAM111A Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FAM111A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	FAM111A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	Q4_23_demote_red, Q4_23_NHS_review
Green	FAM126A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	FAM126A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	FAM149B1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	FAM161A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAM20A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAM20C Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAM20C DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAM20C Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAM20C Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAM46A Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	FAM50A Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	FAM58A DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	new-gene-name
Green	FAM58A Limb disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	new-gene-name
Green	FAM58A Skeletal dysplasia	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	new-gene-name
Green	FANCA Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCB Limb disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	FANCB DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FANCC DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCC Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCD2 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCD2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCE DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCE Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCF Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCF DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCG Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCG DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCI Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCI DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCL Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCL DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCM DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAR1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAR1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	to_be_confirmed_NHSE, Q2_21_expert_review, Q2_21_MOI
Green	FAR1 Early onset or syndromic epilepsy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FARS2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FARS2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FARS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FARS2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FARSA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FASTKD2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FASTKD2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAT4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAT4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBN1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FBN1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FBN2 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FBN2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	FBP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBP1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBRSL1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	FBXL3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBXL4 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBXL4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBXL4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBXL4 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBXO11 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FBXO11 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FBXO11 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FBXO28 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	FBXO28 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FBXO28 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FBXO31 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FBXW11 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FBXW11 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	FBXW7 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FBXW7 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	FDX2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FDXR Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FDXR Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FECH Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FERMT3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FEZF1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FGD1 Limb disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FGD1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FGD1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FGD1 Clefting	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FGF10 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FGF10 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FGF10 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FGF12 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	FGF12 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	FGF12 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FGF13 Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	FGF13 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Other	N/A
Green	FGF14 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FGF16 Limb disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FGF16 Skeletal dysplasia	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FGF23 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FGF3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FGF3 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FGF9 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FGF9 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FGFR1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	mosaicism
Green	FGFR1 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FGFR1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FGFR1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FGFR2 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FGFR2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FGFR2 Likely inborn error of metabolism - targeted testing not possible	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FGFR2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	FGFR2 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FGFR3 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FGFR3 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FGFR3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	FGFR3 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FH Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FHL1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FIG4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FIG4 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FIG4 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FIG4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FILIP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	FKBP10 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKBP10 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKBP14 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKRP Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKRP DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKRP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKTN Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKTN Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKTN Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKTN DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FLAD1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FLAD1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FLNA DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	mosaicism
Green	FLNA Skeletal dysplasia	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	FLNA Limb disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	FLNA Clefting	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	FLNA Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	FLNB Clefting	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FLNB DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FLNB Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FLT4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	FLVCR1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	FLVCR2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FLVCR2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FMN2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FMN2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FMO3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FMR1 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	FMR1 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Other	nucleotide-repeat-expansion
Green	FMR1_CGG Intellectual disability STR	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	STR
Green	FN1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	FN1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	FOLR1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOLR1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOLR1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOLR1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOXC1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FOXC2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FOXC2 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FOXE1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	FOXE3 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FOXF1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FOXG1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FOXG1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FOXG1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FOXI1 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	to_be_confirmed_NHSE, Q1_22_expert_review, Q1_22_MOI
Green	FOXI3 Paediatric disorders - additional genes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FOXJ1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FOXL2 Paediatric disorders - additional genes	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FOXL2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FOXN1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOXP1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FOXP1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FOXP2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FOXP2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FOXP3 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FOXP4 Paediatric disorders - additional genes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	FOXRED1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOXRED1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOXRED1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOXRED1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FRA10AC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FRAS1 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FRAS1 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FRAS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FREM1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FREM2 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FREM2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FRMD5 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FRMD5 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	de novo
Green	FRMD5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FRMPD4 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FRMPD4 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	FRRS1L Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FRRS1L DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FTCD DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FTCD Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FTCD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	ngs-false-positive-region
Green	FTL DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FTSJ1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FTSJ1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FUCA1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FUCA1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FUCA1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FUCA1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FUCA1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FUK DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	new-gene-name
Green	FUT8 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FUT8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FUT8 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FUT8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FXN Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	nucleotide-repeat-expansion
Green	FXN_GAA Likely inborn error of metabolism - targeted testing not possible STR	BIALLELIC, autosomal or pseudoautosomal	N/A	STR
Green	FXR1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FYCO1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FZD2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FZD2 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FZD5 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	gene-checked
Green	FZD6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FZR1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	G6PC Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	G6PC3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GABBR1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	GABBR2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GABBR2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	GABBR2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	GABRA1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GABRA1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GABRA1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GABRA2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	GABRA2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	GABRA5 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	GABRA5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GABRB1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GABRB2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GABRB2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GABRB2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	GABRB3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	GABRB3 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GABRB3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GABRD Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	GABRD Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	GABRG2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GABRG2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GABRG2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GABRG2 Likely inborn error of metabolism - targeted testing not possible	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GAD1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAD1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALC DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALC Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALC Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALC Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALE Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALE Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALE DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALK1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALK1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALM Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALNS Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALNS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALNS Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALNT2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALNT2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALNT2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALNT3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALNT3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALT Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAMT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAMT Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAMT Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAMT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAN DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GARS Likely inborn error of metabolism - targeted testing not possible	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	GAS2L2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAS8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GATA2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GATA3 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GATA3 Paediatric disorders - additional genes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GATA3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GATA4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GATA6 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GATAD2B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GATAD2B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GATM Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GATM Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GATM DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GBA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	GBA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	GBA Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	GBA2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GBE1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GBE1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GCDH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GCDH DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	GCDH Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GCH1 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GCH1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	GCH1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GCLC Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GCSH Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GCSH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GCSH Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GCSH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GDAP1 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	GDF1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GDF1 Paediatric disorders - additional genes	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GDF11 Clefting	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GDF11 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GDF5 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	GDF5 Limb disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GDF5 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GDF6 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	GDF6 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GDI1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GEMIN4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	GEMIN5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GEMIN5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFAP Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GFAP DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	GFAP Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GFER Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFER Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFM1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFM1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFM1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFM2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFPT1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GGPS1 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GHR DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GHR Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GIF Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	GIGYF1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	GIPC3 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GJA1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GJA1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GJA1 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GJA1 Limb disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GJA3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	GJA8 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	GJB2 Monogenic hearing loss	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GJB3 Monogenic hearing loss	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	for-review, to_be_confirmed_NHSE
Green	GJB3 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GJC2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GJC2 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	GK Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GK DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GK Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GLA Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	GLB1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLB1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLB1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLB1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLB1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLDC DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLDC Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLDC Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLDC Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLDN DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLE1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	GLI1 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLI2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GLI2 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GLI2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GLI3 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GLI3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GLI3 Neurological ciliopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GLI3 Skeletal ciliopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GLI3 Ophthalmological ciliopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GLI3 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GLI3 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GLI3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GLIS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLIS3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLIS3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLMN DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GLRA1 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GLRA1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GLRA2 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	Autism Spectrum Disorder
Green	GLRA2 Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Other	N/A
Green	GLRB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLRX5 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLS Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	STR, watchlist_moi
Green	GLUD1 Likely inborn error of metabolism - targeted testing not possible	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	GLUD1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	GLUD1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GLUL Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLUL Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLUL DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	GLUL Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLYCTK Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	GLYCTK Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GM2A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GM2A Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GM2A Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GM2A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMNN DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	GMPPA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPB DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	GMPPB Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNA11 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	mosaicism
Green	GNA14 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	mosaicism, gene-checked
Green	GNAI1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GNAI1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GNAI3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	GNAO1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GNAO1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GNAO1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GNAQ DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	mosaicism
Green	GNAQ Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	mosaicism, somatic
Green	GNAS Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	mosaicism
Green	GNAS DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	mosaicism
Green	GNAS Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	mosaicism
Green	GNAS Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GNB1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	GNB1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	GNB1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GNB2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	GNB2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GNB5 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNB5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNB5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNE Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GNMT Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPAT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPAT Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPAT Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPAT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPTAB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPTAB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPTAB Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPTAB Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPTG Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPTG Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPTG Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPTG DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNS Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNS Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GOLGA2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GORAB Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GORAB Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GORAB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GOSR2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	GOT2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	GOT2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	GPAA1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPAA1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPAA1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPC3 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GPC3 Clefting	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	GPC3 Limb disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GPC3 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GPC4 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Skewed X-inactivation
Green	GPC4 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GPC6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPC6 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPD1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPHN Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GPHN Early onset or syndromic epilepsy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GPSM2 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPSM2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPT2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPX4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPX4 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GREB1L Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	GREB1L DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	GREB1L Paediatric disorders - additional genes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	GRHL2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	GRHL2 Monogenic hearing loss	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GRHL3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GRHL3 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GRHPR Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRIA1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	watchlist_moi
Green	GRIA1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	de novo
Green	GRIA2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GRIA2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GRIA2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GRIA3 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GRIA3 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GRIA4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GRIA4 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GRID2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRID2 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GRIK2 Early onset or syndromic epilepsy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GRIK2 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GRIK2 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GRIN1 Early onset or syndromic epilepsy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GRIN1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GRIN1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	GRIN2A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GRIN2A Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GRIN2A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GRIN2B Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GRIN2B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GRIN2B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GRIN2D DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	GRIN2D Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GRIN2D Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GRIP1 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRM1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRM1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRM6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRM7 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRM7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRM7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRN Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRXCR1 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GSC Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GSPT2 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	gene-checked
Green	GSS Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTF2E2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	GTF2E2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTF2H5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTF2H5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTPBP2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTPBP2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTPBP2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTPBP3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTPBP3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTPBP3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GUCY2C DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GUSB Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GUSB Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GUSB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GUSB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GYG1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GYS1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GYS2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GZF1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GZF1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	H3F3A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	new-gene-name
Green	H3F3A Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	H3F3A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	H3F3B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	H3F3B Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	H3F3B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	new-gene-name
Green	HAAO DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HAAO Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	HAAO Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HACD1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HACE1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HACE1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HACE1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HADH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HADH Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HADHA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HADHA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HADHA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HADHB Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HAMP Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HARS2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HARS2 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HAX1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HAX1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HCCS Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	HCCS DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	HCCS Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	HCFC1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	HCFC1 Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	HCFC1 Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	HCFC1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	HCN1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HCN1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	HCN1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HCN2 Early onset or syndromic epilepsy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HDAC4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HDAC4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HDAC8 Skeletal dysplasia	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	HDAC8 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	HDAC8 Limb disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	HDAC8 Clefting	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	HDAC8 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	HEATR3 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HECTD4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	HECW2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	HECW2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	HECW2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HEPACAM Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEPACAM Intellectual disability	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	HERC1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HERC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HERC2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HERC2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HERC2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HES7 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HESX1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HESX1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HEXA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXA Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXB Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXB Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HFE Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HFE2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	HGD Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HGSNAT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HGSNAT Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HGSNAT Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HGSNAT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HHAT Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HIBCH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HIBCH Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HIBCH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HID1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HID1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HINT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HIST1H1E DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	new-gene-name
Green	HIST1H1E Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	new-gene-name
Green	HIST1H4C Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	new-gene-name
Green	HIST1H4C DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	new-gene-name
Green	HIST1H4E Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	new-gene-name
Green	HIST1H4J DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	new-gene-name
Green	HIVEP2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HIVEP2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HK1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	missense
Green	HK1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HLCS Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HLCS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HLCS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HMBS Likely inborn error of metabolism - targeted testing not possible	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HMGB1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	HMGB1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	HMGCL DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HMGCL Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HMGCL Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HMGCL Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HMGCS2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HMGCS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	HMX1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HNF1B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HNF1B Renal ciliopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HNF4A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HNMT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HNRNPA2B1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HNRNPD DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	HNRNPH1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HNRNPH1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HNRNPH2 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Other	N/A
Green	HNRNPH2 Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	HNRNPH2 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	HNRNPK Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HNRNPK DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HNRNPR DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HNRNPR Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HNRNPR Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HNRNPU DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HNRNPU Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HNRNPU Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HOGA1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HOXA1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HOXA1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HOXA13 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HOXA13 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HOXA13 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HOXA2 Monogenic hearing loss	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HOXB1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	HOXC13 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HOXD13 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	nucleotide-repeat-expansion
Green	HOXD13 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	HOXD13 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HPD Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HPD DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HPD Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HPDL DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	HPDL Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	HPDL Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	HPGD DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HPGD Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HPRT1 Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	HPRT1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	HPRT1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	HPS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HPS1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HPSE2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HR DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HRAS DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	HRAS Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HRAS Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HS2ST1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HS2ST1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HS2ST1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSD17B10 Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	HSD17B10 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	HSD17B10 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	HSD17B4 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSD17B4 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSD17B4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSD17B4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSD17B4 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSD3B7 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSD3B7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSF4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	HSPD1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSPD1 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	HSPD1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSPG2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSPG2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HTRA2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HTRA2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HTRA2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HUWE1 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	HUWE1 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Other	N/A
Green	HYAL1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HYAL1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HYAL2 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	HYAL2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	HYAL2 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	HYDIN DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HYLS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	HYLS1 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HYLS1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HYLS1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HYLS1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IARS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	IARS Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	IARS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	IARS2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IBA57 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IBA57 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ICK Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ICK Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ICK Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ICK Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ICK Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name, watchlist
Green	IDH1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	mosaicism
Green	IDH2 Likely inborn error of metabolism - targeted testing not possible	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	IDH2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	IDS Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	IDS Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	IDS DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	IDS Skeletal dysplasia	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	IDUA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IDUA Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IDUA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IDUA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IER3IP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IER3IP1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IER3IP1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IER3IP1 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFIH1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	IFIH1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	IFIH1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	IFIH1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	IFITM5 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	IFITM5 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	IFT122 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT122 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT122 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	IFT122 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT140 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT140 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT140 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT140 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT140 Renal ciliopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	IFT172 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT172 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT172 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT172 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT172 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT172 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT172 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT27 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT27 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT27 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT43 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	IFT43 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT43 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT43 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT52 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT52 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT74 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT74 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT74 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT80 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT80 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT80 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT80 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	IFT81 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT81 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IGF1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IGF1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IGF1R Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IGF1R DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	IGF2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	N/A	N/A
Green	IGFBP7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IGHMBP2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IGSF1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	IHH Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	IHH DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	IHH Limb disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	cnv
Green	IKBKG DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	IKBKG Skeletal dysplasia	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	IKBKG Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	IKBKG Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	IL11RA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IL11RA Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IL1RAPL1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	IL1RAPL1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	IL1RN Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ILDR1 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IMPAD1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	IMPAD1 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	IMPAD1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	IMPDH2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	INPP5E Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INPP5E Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INPP5E Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INPP5E Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INPP5E DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INPP5K DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	INPP5K Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INPPL1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INPPL1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INTS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INTS11 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INTU Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INVS Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IPO8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IQCB1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IQCB1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IQCE Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IQCE Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IQSEC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	IQSEC2 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Other	N/A
Green	IQSEC2 Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	IQSEC2 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	IREB2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IRF2BPL Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	IRF2BPL Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	IRF2BPL DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	IRF6 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	IRF6 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	IRX5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IRX5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ISCA-37390-Loss Intellectual disability 5p15 terminal (Cri du chat syndrome) region Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37392-Gain Intellectual disability 7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37392-Loss Intellectual disability 7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37393-Gain Intellectual disability 22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37393-Gain Clefting 22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37394-Loss Intellectual disability 2q37.3 terminal region (includes HDAC4) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37394-Loss Limb disorders 2q37.3 terminal region (includes HDAC4) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37394-Loss Skeletal dysplasia 2q37.3 terminal region (includes HDAC4) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37396-Loss Intellectual disability 15q24 recurrent region (A-D) (includes SIN3A) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37397-Gain Intellectual disability 22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37397-Loss Intellectual disability 22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37400-Gain Intellectual disability 16p11.2 recurrent region (includes TBX6) (proximal region) (BP4-BP5) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37400-Loss Intellectual disability 16p11.2 recurrent region (includes TBX6) (proximal region) (BP4-BP5) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37401-Loss Intellectual disability 11p13 (WAGR syndrome) region Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37404-Gain Intellectual disability 15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37404-Loss Early onset or syndromic epilepsy 15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37404-Loss Intellectual disability 15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37405-Loss Renal ciliopathies 2q13 recurrent region (includes NPHP1) Loss region	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA-37405-Loss Intellectual disability 2q13 recurrent region (includes NPHP1) Loss region	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA-37406-Loss Skeletal dysplasia 16p13.3 region (includes CREBBP) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37406-Loss Intellectual disability 16p13.3 region (includes CREBBP) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37408-Loss Intellectual disability 2p15p16.1 region (includes BCL11A) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37411-Loss Early onset or syndromic epilepsy 15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37411-Loss Intellectual disability 15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37415-Gain Intellectual disability 16p13.11 recurrent region (includes MYH11) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37415-Loss Early onset or syndromic epilepsy 16p13.11 recurrent region (includes MYH11) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37415-Loss Intellectual disability 16p13.11 recurrent region (includes MYH11) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37418-Gain Intellectual disability 17p11.2 recurrent (SMS/PLS) region (includes RAI1) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37418-Loss Intellectual disability 17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37418-Loss Skeletal dysplasia 17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37420-Loss Intellectual disability 17q21.3 recurrent region (includes KANSL1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37421-Gain Intellectual disability 1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37421-Loss Intellectual disability 1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37423-Gain Early onset or syndromic epilepsy 8p23.1 recurrent region (includes GATA4) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist
Green	ISCA-37423-Gain Clefting 8p23.1 recurrent region (includes GATA4) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist
Green	ISCA-37423-Gain Intellectual disability 8p23.1 recurrent region (includes GATA4) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37423-Loss Intellectual disability 8p23.1 recurrent region (includes GATA4) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37424-Loss Intellectual disability 10q22.3q23.2 recurrent region (LCR-3/4-flanked) (includes BMPR1A) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37425-Gain Intellectual disability 5q35 recurrent (Sotos syndrome) region (includes NSD1) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37425-Loss Intellectual disability 5q35 recurrent (Sotos syndrome) region (includes NSD1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37429-Loss Early onset or syndromic epilepsy 4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37429-Loss Intellectual disability 4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37430-Gain Intellectual disability 17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37430-Loss Intellectual disability 17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37430-Loss Early onset or syndromic epilepsy 17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37431-Gain Intellectual disability 17q11.2 recurrent region (includes NF1) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37431-Loss Intellectual disability 17q11.2 recurrent region (includes NF1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37432-Gain Early onset or syndromic epilepsy 17q12 recurrent (RCAD syndrome) region (includes HNF1B) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37432-Gain Intellectual disability 17q12 recurrent (RCAD syndrome) region (includes HNF1B) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37432-Loss Intellectual disability 17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37432-Loss Renal ciliopathies 17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37433-Gain Intellectual disability 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37433-Loss Intellectual disability 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37433-Loss Clefting 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37433-Loss Early onset or syndromic epilepsy 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37434-Loss Early onset or syndromic epilepsy 1p36 terminal region (includes GABRD) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37434-Loss Intellectual disability 1p36 terminal region (includes GABRD) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37434-Loss Skeletal dysplasia 1p36 terminal region (includes GABRD) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37439-Gain Intellectual disability Xq28 recurrent region (includes GDI1) Gain region	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ISCA-37440-Loss Intellectual disability 2p21 region (includes PREPL and SLC3A1) Loss region	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA-37440-Loss Likely inborn error of metabolism - targeted testing not possible 2p21 region (includes PREPL and SLC3A1) Loss region	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA-37441-Loss Intellectual disability 11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37441-Loss Skeletal dysplasia 11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37443-Loss Intellectual disability 3q29 recurrent region (includes DLG1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37446-Gain Intellectual disability 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37446-Loss Early onset or syndromic epilepsy 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37446-Loss Clefting 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37446-Loss Intellectual disability 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37467-Gain Clefting 7q36.3 ZRS (SHH cis-regulatory) duplication region (within LMBR1 intron 5) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37468-Loss Intellectual disability Xp11.23 region (includes MAOA and MAOB) Loss region	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ISCA-37478-Gain Early onset or syndromic epilepsy 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37478-Gain Intellectual disability 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37478-Loss Intellectual disability 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37478-Loss Early onset or syndromic epilepsy 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37486-Loss Intellectual disability 16p11.2 recurrent region (includes SH2B1) (distal region) (BP2-BP3) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37493-Loss Intellectual disability 1q43q44 terminal region (includes AKT3) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37493-Loss Early onset or syndromic epilepsy 1q43q44 terminal region (includes AKT3) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37494-Gain Intellectual disability Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) Gain region	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ISCA-37494-Loss Intellectual disability Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) Loss region	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ISCA-37495-Loss Intellectual disability 2q11.2 recurrent region (includes ARID5A, TMEM127) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37500-Loss Intellectual disability 15q25.2 recurrent region (LCR B-C, proximal) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37501-Loss Skeletal dysplasia 17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37501-Loss Intellectual disability 17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-46290-Gain Early onset or syndromic epilepsy Xp11.22p11.23 recurrent region (includes SHROOM4) Gain region	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ISCA-46290-Gain Intellectual disability Xp11.22p11.23 recurrent region (includes SHROOM4) Gain region	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ISCA-46295-Loss Intellectual disability 15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-46295-Loss Early onset or syndromic epilepsy 15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-46297-Loss Early onset or syndromic epilepsy 16p12.2 recurrent region (distal)(includes OTOA) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-46297-Loss Monogenic hearing loss 16p12.2 recurrent region (distal)(includes OTOA) Loss region	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA-46297-Loss Intellectual disability 16p12.2 recurrent region (distal)(includes OTOA) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-46299-Gain Intellectual disability Xp11.22 region (includes HUWE1) Gain region	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ISCA-46303-Loss Clefting SOX9 upstream enhancer region Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-46304-Gain Intellectual disability Xq28 region (includes MECP2) Gain region	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ISCA-46304-Gain Early onset or syndromic epilepsy Xq28 region (includes MECP2) Gain region	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ISCA-46553-Loss Intellectual disability 3q24 Region (includes ZIC1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-46742-Loss Intellectual disability 7p22.1 region (includes ACTB) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCU Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	non-coding-known-pathogenic
Green	ISPD DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ISPD Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ISPD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ITCH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ITGA3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ITGA7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ITGA8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ITGA8 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ITPA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ITPA Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ITPA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ITPR1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ITPR1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	IVD Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IVD DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IVD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	JAG1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	JAG2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	JAGN1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	JAK3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	JAM3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	JAM3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	JARID2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	JARID2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KANSL1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KANSL1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KARS Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KARS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KARS Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KARS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KARS Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KAT5 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	KAT5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KAT5 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KAT6A Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KAT6A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KAT6A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KAT6B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KAT6B Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KAT6B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KAT8 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	missense, watchlist_moi
Green	KAT8 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	missense
Green	KATNB1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KBTBD13 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	KCNA2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNA2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNA2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNB1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNB1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNB1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	KCNC1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	KCNC1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNC1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNC2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNC3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	KCND2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	gene-checked
Green	KCND2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	gene-checked
Green	KCND3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	KCNE1 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KCNE1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	KCNH1 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNH1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	KCNH1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNH1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNH5 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	KCNJ10 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KCNJ10 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KCNJ10 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KCNJ10 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KCNJ11 Early onset or syndromic epilepsy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	KCNJ11 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	KCNJ11 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	KCNJ16 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KCNJ2 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNJ6 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	KCNJ6 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNJ8 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	gene-checked
Green	KCNK3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	KCNK3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	KCNK4 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	KCNK4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	KCNK9 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Other	N/A
Green	KCNMA1 Early onset or syndromic epilepsy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	KCNMA1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	KCNMA1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	KCNN2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNN3 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	KCNN3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	KCNN3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	KCNQ1 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KCNQ1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KCNQ2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNQ2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNQ2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNQ3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	KCNQ3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNQ3 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNQ4 Monogenic hearing loss	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	KCNQ5 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNQ5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNQ5 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNT1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNT1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	KCNT1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNT2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	KCNT2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCTD1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	KCTD3 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	KCTD3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	KCTD7 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KCTD7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KCTD7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KDELR2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KDELR2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KDM1A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	KDM1A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KDM2B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	KDM2B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	KDM3B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KDM3B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KDM4B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KDM4B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KDM5A Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	gene-checked
Green	KDM5B Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	KDM5B DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	KDM5C DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	KDM5C Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	KDM6A Clefting	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	KDM6A DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	KDM6A Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	KDM6B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KDM6B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KIAA0586 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA0586 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA0586 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA0586 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA0586 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA0586 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA0753 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA0753 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA0753 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA0753 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA0825 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA1109 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	new-gene-name
Green	KIAA1109 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KIAA1109 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KIDINS220 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KIDINS220 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	KIF11 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KIF11 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KIF14 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF14 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF1A Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KIF1A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KIF1A DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	KIF1BP DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KIF1BP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KIF1BP Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KIF21B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	gene-checked
Green	KIF22 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KIF22 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	KIF24 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	KIF2A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KIF2A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	KIF2A Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KIF4A Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	KIF5A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KIF5A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KIF5B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	gene-checked
Green	KIF5C Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KIF5C Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KIF5C DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	KIF7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF7 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF7 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF7 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF7 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF7 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIT Monogenic hearing loss	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	KIT DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KLF1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	KLF7 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	KLF7 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	gene-checked
Green	KLHL20 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	gene-checked
Green	KLHL20 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	gene-checked
Green	KLHL40 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KLHL7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	KLHL7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KMT2A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KMT2A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KMT2B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KMT2C DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KMT2C Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KMT2D Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KMT2D DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KMT2D Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KMT2D Clefting	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KMT2E Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KMT2E Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KMT2E DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KMT5B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KMT5B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KNL1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KPTN DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KPTN Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KPTN Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KRAS Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KRAS DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	KRAS Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	KRIT1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KRT74 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	KYNU Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KYNU Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	L1CAM DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	L1CAM Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	L2HGDH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	L2HGDH Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	L2HGDH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMA1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMA1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMA1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMA1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMA2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMA2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMB1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMB1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMC3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMC3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMP2 Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	LAMP2 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	LAMP2 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	LARGE1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LARGE1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LARGE1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LARP7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LARP7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LARS Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	LARS Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	LARS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	LARS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	LARS2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LARS2 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LBR Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LBR DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LBR Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LBR Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LBR Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LCAT Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LCT Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LDHA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LDLR Likely inborn error of metabolism - targeted testing not possible	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	LDLRAP1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LEMD2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	LEMD3 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	LEMD3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	LETM1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LETM1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	LFNG DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	LGI1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	LGI4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LHFPL5 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LHX2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	LHX3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LHX4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	LIAS Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIAS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIAS Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIAS DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	LIFR Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIFR DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIG4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIG4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LINGO1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LINGO4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	LINS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LINS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIPA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIPN DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIPT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	LIPT1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIPT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIPT2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	LIPT2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LMBR1 Limb disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LMBR1 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LMBRD1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LMBRD1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LMBRD2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	gene-checked
Green	LMBRD2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	gene-checked
Green	LMNA Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LMNA DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	LMNB1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	LMNB1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	LMNB2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	LMOD3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LMX1A Monogenic hearing loss	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LMX1B Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	LMX1B Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	LMX1B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	LNPK DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LONP1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LONP1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LONP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	LONP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LOXHD1 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LPIN1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LPIN2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LPL Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LRAT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRBA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRIG2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRIG2 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRIT3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRP2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRP2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRP4 Limb disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LRP4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRP4 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LRP5 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LRP5 Skeletal dysplasia	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	LRPPRC Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRPPRC DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRPPRC Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRRC56 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	LRRC6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	LRRK1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRTOMT Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LSS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LTBP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LTBP1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LTBP1 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LTBP2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LTBP3 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LTBP3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LYRM4 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LYRM7 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LYRM7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LYST DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LZTFL1 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LZTFL1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LZTFL1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LZTR1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LZTR1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	MAB21L1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAB21L1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAB21L2 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MAB21L2 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MACF1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	MACF1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	MACF1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	MADD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MADD Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MADD DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAF DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	MAF Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MAF Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MAFB DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MAFB Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MAGEL2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	N/A	N/A
Green	MAGEL2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	N/A	N/A
Green	MAGT1 Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	MAMLD1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	MAN1B1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAN1B1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	MAN1B1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAN2B1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAN2B1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAN2B1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAN2B1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAN2C1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAN2C1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MANBA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MANBA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MANBA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAOA Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	MAOA DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	MAOA Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	MAP1B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MAP2K1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MAP2K1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MAP2K1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	MAP2K2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	MAP2K2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MAP2K2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MAP3K1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MAP3K7 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MAP3K7 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	MAP3K7 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	MAPK1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	MAPK1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	MAPK8IP3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MAPK8IP3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MAPKAPK5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAPKBP1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAPRE2 Intellectual disability	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Other	N/A
Green	MAPRE2 Clefting	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MAPRE2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	MARS2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MARVELD2 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MASP1 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MASP1 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MASP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MASP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MASP1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAST1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	MAST1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MAT1A Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MAT1A Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MAT1A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MATN3 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MATN3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	MBD5 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MBD5 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MBD5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MBOAT7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MBOAT7 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MBOAT7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MBTPS1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MBTPS2 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	MBTPS2 Clefting	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	MC2R DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCCC1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCCC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCCC1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCCC2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCCC2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCCC2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCEE Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCEE DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCM3AP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCOLN1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCOLN1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCOLN1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCPH1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCPH1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MDH2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MDH2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MDH2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MDH2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MECOM DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	MECOM Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MECP2 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	MECP2 Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	MECP2 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	MECR Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MECR DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MED11 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MED11 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MED11 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	MED12 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Other	N/A
Green	MED12 Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	Skewed X-inactivation
Green	MED12 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	Skewed X-inactivation
Green	MED12 Clefting	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	Skewed X-inactivation
Green	MED13 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MED13 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MED13L Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MED13L DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MED17 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MED17 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	MED23 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MED25 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	MED25 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	MED25 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	MED27 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MED27 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MED27 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MEF2C DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MEF2C Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MEF2C Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MEGF10 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MEGF8 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MEGF8 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MEGF8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MEIS2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MEIS2 Clefting	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MEIS2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MEOX1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MEOX1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MESD DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MESD Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MESP2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MESP2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	METTL23 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	METTL23 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	METTL5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	METTL5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	MFF DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MFF Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MFF Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MFF Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MFN2 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MFN2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	MFRP DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MFSD2A DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	MFSD2A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MFSD8 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MFSD8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MFSD8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MFSD8 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MGAT2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MGAT2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MGAT2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MGME1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MGP DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MGP Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MICU1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MICU1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MICU1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MID1 Clefting	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	MID1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	MID1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	MINPP1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MINPP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MIPEP Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MIR17HG DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	MITF DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MITF Monogenic hearing loss	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	MKKS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKKS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKKS Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKKS Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKKS Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKKS Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKS1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKS1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	MKS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKS1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	MKS1 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKS1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKS1 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MLC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MLC1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MLC1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MLYCD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MLYCD Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MLYCD DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMAA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMAA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMAA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMAB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMAB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMAB Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMACHC DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMACHC Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMACHC Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMACHC Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMADHC Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMADHC Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMADHC DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMADHC Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMGT1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Other	gene-checked
Green	MMP13 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	MMP13 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MMP2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMP21 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MN1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MN1 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MN1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MNX1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MNX1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MOCS1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MOCS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MOCS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MOCS1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MOCS2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MOCS2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MOCS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MOCS2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MOGS Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MOGS DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	MOGS Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MOGS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MORC2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	MORC2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	MPC1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPDU1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPDU1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPDU1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPDU1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPDU1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPI Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPI DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPLKIP DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPLKIP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPP5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked, new-gene-name
Green	MPV17 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPV17 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPZ DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	MPZL2 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRAS DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	MRE11 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRPL3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRPL44 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRPS2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRPS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	MRPS22 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRPS22 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	MRPS22 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRPS34 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRPS34 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRPS34 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MSL2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	MSL3 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	MSL3 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	MSMO1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MSMO1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MSRB3 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MSTO1 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MSX1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MSX1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MSX2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MSX2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MT-ATP6 Likely inborn error of metabolism - targeted testing not possible	MITOCHONDRIAL	N/A	gene-checked
Green	MT-ATP8 Likely inborn error of metabolism - targeted testing not possible	MITOCHONDRIAL	N/A	gene-checked
Green	MT-CO1 Likely inborn error of metabolism - targeted testing not possible	MITOCHONDRIAL	N/A	gene-checked
Green	MT-CO2 Likely inborn error of metabolism - targeted testing not possible	MITOCHONDRIAL	N/A	gene-checked
Green	MT-CO3 Likely inborn error of metabolism - targeted testing not possible	MITOCHONDRIAL	N/A	gene-checked
Green	MT-CYB Likely inborn error of metabolism - targeted testing not possible	MITOCHONDRIAL	N/A	gene-checked
Green	MT-ND1 Likely inborn error of metabolism - targeted testing not possible	MITOCHONDRIAL	N/A	gene-checked
Green	MT-ND2 Likely inborn error of metabolism - targeted testing not possible	MITOCHONDRIAL	N/A	gene-checked
Green	MT-ND3 Likely inborn error of metabolism - targeted testing not possible	MITOCHONDRIAL	N/A	gene-checked
Green	MT-ND4 Likely inborn error of metabolism - targeted testing not possible	MITOCHONDRIAL	N/A	gene-checked
Green	MT-ND4L Likely inborn error of metabolism - targeted testing not possible	MITOCHONDRIAL	N/A	gene-checked
Green	MT-ND5 Likely inborn error of metabolism - targeted testing not possible	MITOCHONDRIAL	N/A	gene-checked
Green	MT-ND6 Likely inborn error of metabolism - targeted testing not possible	MITOCHONDRIAL	N/A	gene-checked
Green	MT-RNR1 Monogenic hearing loss	MITOCHONDRIAL	N/A	locus-type-rna-ribosomal, gene-checked
Green	MT-RNR1 Likely inborn error of metabolism - targeted testing not possible	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TA Likely inborn error of metabolism - targeted testing not possible	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TC Likely inborn error of metabolism - targeted testing not possible	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TD Likely inborn error of metabolism - targeted testing not possible	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TE Likely inborn error of metabolism - targeted testing not possible	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TF Likely inborn error of metabolism - targeted testing not possible	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TG Likely inborn error of metabolism - targeted testing not possible	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TH Likely inborn error of metabolism - targeted testing not possible	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TI Likely inborn error of metabolism - targeted testing not possible	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TK Likely inborn error of metabolism - targeted testing not possible	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TL1 Likely inborn error of metabolism - targeted testing not possible	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TL2 Likely inborn error of metabolism - targeted testing not possible	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TM Likely inborn error of metabolism - targeted testing not possible	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TN Likely inborn error of metabolism - targeted testing not possible	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TP Likely inborn error of metabolism - targeted testing not possible	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TP DDG2P	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TQ Likely inborn error of metabolism - targeted testing not possible	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TR Likely inborn error of metabolism - targeted testing not possible	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TS1 Likely inborn error of metabolism - targeted testing not possible	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TS1 Monogenic hearing loss	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TS2 Likely inborn error of metabolism - targeted testing not possible	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TV Likely inborn error of metabolism - targeted testing not possible	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TW Likely inborn error of metabolism - targeted testing not possible	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TY Likely inborn error of metabolism - targeted testing not possible	MITOCHONDRIAL	N/A	gene-checked
Green	MTFMT Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTFMT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTHFR Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTHFR DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTHFR Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTHFR Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTHFS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTHFS Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTM1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	MTO1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTO1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTO1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTOR Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MTOR DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	MTOR Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	mosaicism, missense, somatic
Green	MTPAP Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTR Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTR DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTR Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTRR Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTRR DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTRR Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTSS1L Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	new-gene-name
Green	MTSS1L DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	new-gene-name
Green	MTTP Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTX2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MUT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	MUT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	MUT Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	MVK Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MVK Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYBPC1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MYCN Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYCN DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MYCN Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYCN Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYF5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYH14 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYH3 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MYH3 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	MYH7 Paediatric disorders - additional genes	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MYH9 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYH9 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	MYLK DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYLPF DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	new-gene-name
Green	MYMK Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYO15A Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYO18B Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYO18B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYO3A Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYO5A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYO5A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYO5B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYO6 Monogenic hearing loss	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MYO7A Monogenic hearing loss	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MYO7A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYOCD Paediatric disorders - additional genes	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MYOCD DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYPN DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYRF DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MYT1L Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYT1L DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NAA10 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	NAA10 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	NAA15 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NAA15 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NACC1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	NACC1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NACC1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	missense
Green	NADK2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NADSYN1 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NADSYN1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAE1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	NAGA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAGA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAGA Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAGA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAGLU Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAGLU Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAGLU Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAGLU DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAGS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAGS Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NALCN DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	NALCN Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	NANS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NANS Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NANS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAPB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAPB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAPB Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NARS Early onset or syndromic epilepsy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	new-gene-name
Green	NARS Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	new-gene-name
Green	NARS DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	new-gene-name
Green	NARS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NARS2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NARS2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAXD Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAXD DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAXE DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAXE Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NBAS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NBAS Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NBEA DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NBEA Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NBEA Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NBN DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NCAPG2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	NCDN Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NCDN DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	NCKAP1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	NDE1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDE1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDE1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDNF DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NDP Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	NDP DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	NDST1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	NDUFA1 Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	NDUFA1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	NDUFA1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	NDUFA1 Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	NDUFA10 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA10 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	NDUFA10 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA11 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA12 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA12 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA13 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA4 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA6 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA8 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA9 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF4 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF5 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF5 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF6 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	NDUFAF8 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	NDUFB10 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFB11 Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	NDUFB11 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	NDUFB3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFB3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFB8 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFB8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFC2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS4 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS4 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS6 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS7 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS8 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	NDUFS8 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFV1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFV1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	NDUFV1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFV1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFV2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	NDUFV2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NECTIN1 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NECTIN4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEDD4L DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	NEDD4L Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NEDD4L Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NEDD4L Clefting	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NEK1 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEK1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEK1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	monogenic-polygenic
Green	NEK1 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEK8 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEK8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEMF Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEU1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEU1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEU1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEU1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEUROD2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NEUROD2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NEXMIF Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	NEXMIF Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	NEXMIF DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	NF1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NF1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NF1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NFASC Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NFE2L2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	NFIA Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	deletions
Green	NFIA DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NFIB DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NFIX DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NFIX Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NFIX Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NFS1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	NFU1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NFU1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	NFU1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NGLY1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NGLY1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NGLY1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NGLY1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NHLRC1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NHLRC1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NHLRC2 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	NHLRC2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	NHP2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	NHS DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	NHS Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	NIPBL Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NIPBL Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NIPBL Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NIPBL Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NIPBL DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NKAP DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Other	N/A
Green	NKAP Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	missense
Green	NKX2-1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NKX2-1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NKX2-5 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NKX3-2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NKX3-2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NKX6-2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NLGN3 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	NLGN3 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	NLRP3 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NMNAT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NNT Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NODAL DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NOG Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NOG DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NOG Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NONO DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	NONO Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	NOTCH1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NOTCH1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NOTCH1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NOTCH1 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NOTCH2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	NOTCH2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NOVA2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NOVA2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NPC1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPC1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPC2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPC2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPC2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP3 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP3 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP3 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP4 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP4 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPM1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	NPR2 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	NPR2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPR3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPR3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPRL2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NPRL3 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NR2F1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NR2F1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NR2F2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NR4A2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	Autism Spectrum Disorder
Green	NR4A2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NR4A2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NRAS Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NRAS DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	NRCAM DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NRCAM Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NRROS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NRROS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NRROS Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NRXN1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	NRXN1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	NRXN1 Early onset or syndromic epilepsy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	NRXN2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	NSD1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NSD1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NSD1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NSD1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NSD2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NSD2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NSDHL Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	NSDHL Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	NSDHL DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	NSDHL Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	NSDHL Skeletal dysplasia	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	NSRP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NSRP1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NSRP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NSUN2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	NSUN2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NSUN3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NT5C2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NT5C3A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NT5C3A Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NTNG2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	NTNG2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	NTRK1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NTRK1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NTRK2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	NTRK2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NTRK2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NUBPL DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUBPL Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUBPL Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUDT2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUDT2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUP133 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUP214 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUP214 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUP214 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUP54 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	NUP62 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	NUS1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NUS1 Early onset or syndromic epilepsy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	NUS1 Intellectual disability	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	NXN Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NYX DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	OAT Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OBSL1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OBSL1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OCLN Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OCLN Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OCLN DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OCRL DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	OCRL Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	OCRL Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ODC1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ODC1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	OFD1 Ophthalmological ciliopathies	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	OFD1 Neurological ciliopathies	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	OFD1 Renal ciliopathies	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	OFD1 Clefting	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	OFD1 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	OFD1 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	OFD1 Skeletal dysplasia	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	OGDH Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OGDH DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	OGDHL DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OGDHL Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OGDHL Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OGDHL Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OGT DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	OGT Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ONECUT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	OPA1 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	OPA1 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	OPA3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OPA3 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	OPHN1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	OPHN1 Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	OPHN1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ORC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ORC1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ORC4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ORC4 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ORC6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ORC6 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OSBPL2 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	OSGEP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OSGEP DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	OSTM1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OTC DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	OTC Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	OTC Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	gene-therapy-trial
Green	OTOA Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OTOF Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OTOG Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OTOGL Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OTOGL DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OTUD5 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	OTUD5 Paediatric disorders - additional genes	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	OTUD5 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Other	N/A
Green	OTUD6B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OTUD6B Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OTUD6B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OTUD7A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	OTUD7A Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	OTULIN DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OTX2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	OTX2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	OXCT1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OXCT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OXR1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OXR1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OXR1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	P2RX2 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	P3H1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	P3H1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	P4HB Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	P4HB DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	P4HTM DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	P4HTM Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	P4HTM Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PACS1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PACS1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PACS1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PACS2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PACS2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PACS2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PAFAH1B1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PAFAH1B1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PAFAH1B1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PAH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PAH Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PAH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PAH Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PAK1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PAK1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	missense
Green	PAK1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PAK3 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PAK3 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PALB2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PALB2 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PAN2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	PAN2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	PANK2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PAPPA2 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	PAPSS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PAPSS2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PARN DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PARN Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PARS2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PARS2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PAX1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PAX2 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PAX2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PAX3 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PAX3 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PAX3 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PAX3 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PAX3 Monogenic hearing loss	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PAX6 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PAX8 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PAX8 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PAX9 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PBX1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	curated_removed
Green	PBX1 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PBX1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PC Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PC DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PC Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCBD1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCBD1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCCA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCCA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCCA Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCCA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCCB Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCCB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCCB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCCB Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCDH12 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	PCDH12 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCDH12 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCDH15 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCDH19 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	mosaicism, x-linked-over-dominance, somatic
Green	PCDH19 Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	PCDH19 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	PCDHGC4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCDHGC4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCDHGC4 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCGF2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PCGF2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PCK1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCNT Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCNT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCNT Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCNT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCSK9 Likely inborn error of metabolism - targeted testing not possible	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PCYT1A Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCYT1A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCYT2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCYT2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCYT2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDCD10 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PDE10A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PDE3A Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PDE3A Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PDE4D Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PDE4D DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PDE4D Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PDE6G DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDE6H DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDGFRB Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PDGFRB DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PDHA1 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	PDHA1 Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	PDHA1 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	PDHA1 Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	PDHB Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDHB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDHX Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDHX Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	deletions
Green	PDHX Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDHX DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDK3 Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PDP1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDSS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	PDSS1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDSS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDSS2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDSS2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDSS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDZD7 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDZD8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEPD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEPD DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEPD Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PET100 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PET100 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PET100 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	PET100 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX10 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX10 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX10 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX11B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX11B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX11B Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX12 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX12 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX12 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX13 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX13 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX13 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX14 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX14 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX14 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX16 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX16 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX16 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX19 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX19 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX19 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX26 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX26 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX26 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX5 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX5 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX6 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PEX6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX6 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	PEX7 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX7 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PFKM Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAM2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAP2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAP2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAP2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	PGAP3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAP3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAP3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGK1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PGK1 Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PGK1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PGM1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGM1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGM2L1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGM2L1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGM2L1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGM3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGM3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGM3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGM3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHACTR1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PHACTR1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PHACTR1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PHEX Skeletal dysplasia	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	PHF21A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PHF21A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	deletions
Green	PHF6 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	PHF6 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	PHF8 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PHF8 Clefting	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PHF8 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PHGDH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHGDH Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHGDH Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHGDH Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHGDH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHIP Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PHIP DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PHKA1 Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PHKA2 Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PHKB Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHKG2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHOX2B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PHYH Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PI4KA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PI4KA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIBF1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIBF1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIBF1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIDD1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIDD1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIDD1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIEZO1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIEZO2 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PIEZO2 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PIGA Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Skewed X-inactivation
Green	PIGA Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Skewed X-inactivation
Green	PIGA Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Skewed X-inactivation
Green	PIGA DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Skewed X-inactivation
Green	PIGB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGB Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGC Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGC Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGG Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGG Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGG DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGH Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	Autism Spectrum Disorder
Green	PIGK Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGK Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGK DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGL DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGL Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGL Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGN Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGN Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGN Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGN DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	PIGN Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGO DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGO Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGO Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGO Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGP Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGQ Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGQ Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGQ Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGS Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGT Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGT DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	PIGT Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGT Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGU Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	missense
Green	PIGU DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	PIGU Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	missense
Green	PIGV Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGV Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGV DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	PIGV Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGV Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGW Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGW Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGY DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	PIH1D3 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	PIK3C2A Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIK3C2A Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIK3CA Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	mosaicism, somatic
Green	PIK3CA DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	mosaicism
Green	PIK3CA Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	mosaicism, somatic
Green	PIK3R1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PIK3R1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PIK3R2 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PIK3R2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PIK3R2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PIK3R2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PINK1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PISD Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PITRM1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	PITX1 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PITX1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PITX1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PITX2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PITX3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PKD1 Renal ciliopathies	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	PKD1L1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PKD2 Renal ciliopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PKDCC Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PKHD1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PKHD1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLA2G6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLA2G6 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLA2G6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLAA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLAA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLAA Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLCB1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLCB1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLCB1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLCB4 Clefting	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PLCB4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PLCE1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLD1 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLEC DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLK1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	PLK1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	PLK4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLK4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLOD1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLOD2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLOD2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLP1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PLP1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PLPBP Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLPBP DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLPBP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLS1 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PLS3 Skeletal dysplasia	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	PLVAP Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLXNA1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PLXNA1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PLXND1 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLXND1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	PMM2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMM2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMM2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMM2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMM2 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMM2 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	Q3_23_demote_red, Q3_23_expert_review
Green	PMM2 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMM2 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMPCA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMPCB DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	PMPCB Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMPCB Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMPCB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNKP DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNKP Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNKP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNP Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPLA1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	PNPLA2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPLA2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPLA6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPLA6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPLA8 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPO Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPO DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPO Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	PNPT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPT1 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPT1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPT1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POC1A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POC1A Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POC1B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POGZ DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	POGZ Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	POLA1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	POLA1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	POLD1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	POLE DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLG DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	POLG Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POLG Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLG Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLG2 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POLR1A Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	POLR1A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	POLR1B Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	POLR1B Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	POLR1C Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLR1C DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLR1C Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLR1C Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLR1D Clefting	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POLR1D DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	POLR1D Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POLR2A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	POLR2A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	POLR3A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLR3A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLR3B Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POLR3B DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POLRMT Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMK Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMK DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POP1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POR Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POR Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PORCN DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	PORCN Limb disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	PORCN Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	PORCN Clefting	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	POU1F1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POU3F2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	POU3F3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	POU3F3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	POU3F4 Monogenic hearing loss	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	POU4F1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	POU4F3 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PPA2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPA2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	PPFIBP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPFIBP1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPFIBP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPIB Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPIL1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPIL1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPIL1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPM1D Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PPM1D DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PPOX Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PPP1CB DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PPP1CB Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PPP1R12A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PPP1R12A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PPP1R13L DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPP1R15B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPP1R21 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	PPP1R21 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	PPP2CA DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PPP2CA Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PPP2CA Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PPP2R1A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PPP2R1A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PPP2R5D DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PPP2R5D Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PPP3CA Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PPP3CA Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PPP3CA DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PPT1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPT1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PQBP1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PQBP1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PRDM12 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRDM13 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRDM13 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRDX3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PREPL DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRICKLE1 Early onset or syndromic epilepsy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PRICKLE2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	PRIM1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRKACA DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PRKACA Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRKACA Skeletal ciliopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRKACB Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PRKACB DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PRKACB Skeletal ciliopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PRKAG2 Likely inborn error of metabolism - targeted testing not possible	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRKAR1A Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	PRKAR1A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PRKAR1B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PRKAR1B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRKD1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PRKG2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRKG2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRMT7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRMT7 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRMT7 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRMT7 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRMT7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRODH Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PROP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRPF8 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRPF8 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRPF8 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PRPS1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PRPS1 Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PRPS1 Monogenic hearing loss	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PRPS1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PRR12 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRR12 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PRRT2 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PRRT2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRSS12 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRSS12 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRSS56 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRUNE1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRUNE1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSAP Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSAP DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSAP Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSAP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSAT1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSAT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSAT1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSMB8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	PSMC5 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	gene-checked
Green	PSMD12 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PSPH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSPH Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSPH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTCH1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PTCH1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PTCH1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PTCHD1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PTCHD1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PTDSS1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PTDSS1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PTDSS1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PTEN DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	mosaicism
Green	PTEN Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PTEN Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PTF1A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTF1A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTH1R DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PTH1R Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PTHLH Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PTHLH DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PTHLH Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PTPN11 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PTPN11 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PTPN11 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PTPN14 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTPN23 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTPN23 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTPN4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	PTPRQ Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	Q3_23_MOI
Green	PTRH2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTRHD1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	PTS Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTS Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PUF60 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	microdeletion
Green	PUF60 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PUF60 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	microdeletion
Green	PUM1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PUM1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PURA DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PURA Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PURA Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PUS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PUS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PUS1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PUS3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PUS3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PUS7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PUS7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PXDN DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYCR1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYCR1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYCR1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYCR1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYCR2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	PYCR2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYGL DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYGL Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYGM Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYROXD1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	QARS DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	new-gene-name
Green	QARS Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	QARS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	QDPR Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	QDPR DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	QDPR Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	QRICH1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	QRICH1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	QRSL1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB11A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	gene-checked
Green	RAB11A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	RAB11B Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RAB11B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RAB11B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	RAB14 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	gene-checked
Green	RAB18 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB18 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB18 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB23 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB23 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB23 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB23 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB33B Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB39B DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	RAB39B Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	RAB3GAP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB3GAP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB3GAP2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB3GAP2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAC1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	RAC1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RAC3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	RAC3 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	RAC3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	RAD21 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RAD21 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RAD21 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RAD51 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RAD51C DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	RAF1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	RAF1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RAI1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RAI1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RALA DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	RALA Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	RALA Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	RALGAPA1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RALGAPA1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RALGAPA1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAPSN DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RARB DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RARB Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RARS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	RARS Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	RARS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	RARS2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RARS2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RARS2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RARS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RASGRP2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAX DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RBBP8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RBBP8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RBCK1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RBM10 Clefting	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	RBM10 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	RBM10 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	RBM8A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RBM8A Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RBM8A Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RBP4 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RBPJ Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RBPJ DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	RBPJ Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RBSN Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	RDX Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RECQL4 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RECQL4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RECQL4 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RELN DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RELN Early onset or syndromic epilepsy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	missense
Green	RELN Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	REN Paediatric disorders - additional genes	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RERE DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RERE Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	REST DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	RET DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	RETREG1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RFT1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RFT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RFT1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RFT1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RFT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RFX3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	RFX4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	RFX6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RFX7 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RHEB Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	somatic, mosaicism, gene-checked
Green	RHOBTB2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	RHOBTB2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	RHOBTB2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	RIMS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RIN2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RINT1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RINT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RINT1 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RIPK4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RIT1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	RIT1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RLIM Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	missense
Green	RLIM DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Other	N/A
Green	RMND1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	RMND1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RMND1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RMND1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RMRP DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RMRP Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	locus-type-rna-misc
Green	RNASEH1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASEH2A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASEH2A Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASEH2A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASEH2B Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASEH2B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASEH2B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASEH2C Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASEH2C Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASEH2C DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASET2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASET2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASET2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNF113A Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	Skewed X-inactivation
Green	RNF113A Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	Skewed X-inactivation
Green	RNF125 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RNF13 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	RNF13 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	RNF13 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	RNF220 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNPC3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	RNU4ATAC DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	RNU4ATAC Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNU4ATAC Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	locus-type-rna-small-nuclear
Green	RNU7-1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	ROBO1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ROBO3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ROBO4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ROGDI DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ROGDI Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ROGDI Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ROR2 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ROR2 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ROR2 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ROR2 Limb disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RORA DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RORA Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RORA Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RORB Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RORB DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPE65 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPGRIP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPGRIP1L Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPGRIP1L Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPGRIP1L Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPGRIP1L Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPGRIP1L DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPGRIP1L Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPIA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPIA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPL10 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Other	N/A
Green	RPL10 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	RPL10 Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	RPL11 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPL11 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPL13 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPL26 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPL35A Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPL5 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPL5 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS10 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS17 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS19 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS19 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS23 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	RPS24 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS26 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS26 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS26 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS6KA3 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Q3_23_MOI
Green	RPS6KA3 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	RPS7 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RRAS DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	gene-checked
Green	RRAS2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	RRM2B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RRM2B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RRM2B Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RSPH1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RSPH3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RSPO2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RSPO4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RSPRY1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RSRC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RSRC1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RTEL1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RTEL1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RTN4IP1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RTN4IP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RTN4IP1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RTN4IP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RTTN DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	RTTN Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RTTN Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RUNX2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RUNX2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RYR1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	S1PR2 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SACS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SACS Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SALL1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SALL1 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SALL1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SALL1 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SALL4 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SALL4 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SALL4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SALL4 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SALL4 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SAMD9 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SAMD9 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	missense
Green	SAMHD1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SAMHD1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SAMHD1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SAMHD1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SAR1B Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SARS Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist_moi, new-gene-name
Green	SARS DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	new-gene-name
Green	SARS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	SARS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	SARS2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SARS2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SATB1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SATB1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SATB1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SATB2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SATB2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SATB2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SATB2 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SBDS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SBDS Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SBDS Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SBF1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SC5D Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SC5D DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	SC5D Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCAF4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SCAF4 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SCAF4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SCAMP5 Early onset or syndromic epilepsy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	gene-checked
Green	SCAMP5 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	gene-checked
Green	SCAPER Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCARB2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCARF2 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCARF2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCARF2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCLT1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	SCLT1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	SCN11A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SCN1A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SCN1A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SCN1A Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SCN1B Early onset or syndromic epilepsy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SCN1B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SCN2A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SCN2A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SCN2A Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SCN3A Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SCN3A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SCN3A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SCN4A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SCN8A Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	to_be_confirmed_NHSE, for-review
Green	SCN8A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	SCN8A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SCO1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCO1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCO2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCO2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCO2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCP2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCUBE3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCUBE3 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCUBE3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCYL1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCYL1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDCCAG8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDCCAG8 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDCCAG8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDCCAG8 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDHA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDHA DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	SDHA Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SDHAF1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDHAF1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDHAF1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	SDHB Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDHD Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SEC23B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SEC23B Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	Q4_23_MOI
Green	SEC24D Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SEC24D DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SECISBP2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SELENOI DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SELENON DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SEMA3A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SEMA6B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	de novo
Green	SEMA6B Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	SEMA6B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SEPSECS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SEPSECS Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SEPSECS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SERAC1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SERAC1 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SERAC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SERAC1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SERPINB6 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SERPINF1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SERPINH1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SERPINI1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SET Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SET DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SETBP1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SETBP1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SETBP1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SETD1A Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SETD1A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SETD1A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SETD1B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SETD1B Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SETD1B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SETD2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SETD2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SETD2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	de novo
Green	SETD5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SETD5 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SETD5 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SETX Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SF3B2 Clefting	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SF3B4 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SF3B4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SF3B4 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SF3B4 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SFRP4 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SFRP4 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SFXN4 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SFXN4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGMS2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SGPL1 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGPL1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGSH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGSH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGSH Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGSH Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGSH Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SH3BP2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SH3PXD2B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SH3PXD2B Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SHANK1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	SHANK1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	SHANK2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SHANK2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SHANK3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SHANK3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SHH DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SHH Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SHH Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SHMT2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SHMT2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SHMT2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	SHOC2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SHOC2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SHOX DDG2P	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	Pseudoautosomal region 1
Green	SHOX Limb disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	Pseudoautosomal region 1
Green	SHOX Skeletal dysplasia	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	Pseudoautosomal region 1
Green	SHROOM3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	SI Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SIAH1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SIAH1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SIK1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SIK1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SIK1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SIL1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SIL1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SIM1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	multifactorial, gene-checked
Green	SIN3A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SIN3A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SIN3B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	SIX1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SIX1 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SIX1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SIX2 Paediatric disorders - additional genes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked, structural-variant
Green	SIX3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SIX3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SIX3 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SIX5 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SIX5 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SKI Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SKI DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SKI Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SKI Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SKIV2L Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	SKIV2L DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	SLC10A7 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC10A7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC12A2 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC12A2 Monogenic hearing loss	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC12A3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	monogenic-polygenic
Green	SLC12A5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	SLC12A5 Early onset or syndromic epilepsy	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	SLC12A5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC12A6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC12A6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC13A5 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC13A5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC13A5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC16A1 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC16A2 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SLC16A2 Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	SLC16A2 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SLC17A5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC17A5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC17A5 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC17A5 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC17A8 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SLC18A2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC19A2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC19A3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC19A3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC19A3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC1A1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC1A2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SLC1A2 Early onset or syndromic epilepsy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC1A2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SLC1A4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC1A4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC1A4 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC22A5 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC22A5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC24A4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A12 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A12 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A12 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A13 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A15 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A15 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A15 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A19 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A19 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	SLC25A20 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A20 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A22 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	SLC25A22 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A22 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A22 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A24 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SLC25A26 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A26 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A32 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	SLC25A38 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A38 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A4 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SLC25A42 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A42 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A46 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC26A2 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC26A2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC26A2 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC26A2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC26A4 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC26A5 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC27A4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC29A3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC2A1 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC2A1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC2A1 Early onset or syndromic epilepsy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	treatable
Green	SLC2A1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SLC2A10 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC2A2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC2A2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC30A10 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC31A1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	SLC32A1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	gene-checked
Green	SLC32A1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	SLC32A1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	SLC33A1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC33A1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC34A1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SLC34A3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35A1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35A1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35A1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35A2 Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	SLC35A2 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	SLC35A2 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	SLC35A2 Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	SLC35C1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35C1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35C1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35C1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35D1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35D1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35D1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC37A4 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC37A4 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC38A3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC38A3 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC38A3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC39A13 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC39A13 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC39A14 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC39A14 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC39A4 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC39A8 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC39A8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	SLC39A8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC39A8 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC3A1 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	SLC40A1 Likely inborn error of metabolism - targeted testing not possible	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SLC45A1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	SLC46A1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC46A1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC46A1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC4A1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	SLC4A11 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC4A11 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC4A4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC4A4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC52A2 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	SLC52A2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC52A2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC52A3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC52A3 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	SLC52A3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC5A1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC5A5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC5A6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC5A6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC5A6 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC5A7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	SLC6A1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SLC6A1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SLC6A1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SLC6A17 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC6A17 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	SLC6A19 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC6A19 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC6A20 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	gene-checked, refuted, Q4_23_demote_red
Green	SLC6A3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC6A3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC6A3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC6A5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC6A8 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SLC6A8 Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SLC6A8 Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SLC6A8 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SLC6A9 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC6A9 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC7A7 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC7A9 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	SLC9A6 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SLC9A6 Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	SLC9A6 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	SLCO2A1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLF2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	SLITRK6 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLX4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLX4 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLX4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMAD3 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMAD3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMAD3 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMAD4 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMAD4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMAD4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMAD4 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMAD6 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMAD6 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMARCA2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SMARCA2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMARCA2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMARCA4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMARCA4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMARCA5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	SMARCAL1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMARCAL1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMARCB1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMARCB1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMARCC2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMARCC2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMARCC2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMARCD1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMARCD1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SMARCE1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMARCE1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SMC1A DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	SMC1A Skeletal dysplasia	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	SMC1A Limb disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	SMC1A Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	SMC1A Clefting	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	SMC1A Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	SMC3 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMC3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMC3 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMC3 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMC3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SMC5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	SMCHD1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SMG8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMG8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMG9 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMO Limb disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	somatic, mosaicism
Green	SMO DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	mosaicism
Green	SMOC1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMOC1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMOC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMOC1 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMOC2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMPD1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMPD1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMPD1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMPD4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMPD4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMPX Monogenic hearing loss	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	SMS Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SMS Clefting	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SMS Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SMS DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SNAP25 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SNAP25 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SNAP25 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SNAP29 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SNAP29 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SNIP1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	SNIP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	SNORD118 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SNORD118 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SNORD118 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	locus-type-small-nucleolar
Green	SNRPB DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SNRPB Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SNRPB Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SNRPB Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SNRPE DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SNX10 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SNX14 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SNX14 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SNX27 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	SON Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SON Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SON DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SOS1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SOS1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SOS2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SOS2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SOST Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SOX10 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SOX10 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SOX10 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SOX11 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SOX11 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SOX11 Paediatric disorders - additional genes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SOX17 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SOX2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SOX2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SOX2 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	for-review, to_be_confirmed_NHSE
Green	SOX3 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	SOX4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SOX4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SOX5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SOX5 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SOX6 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SOX6 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SOX9 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SOX9 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SOX9 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SOX9 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SP7 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPAG1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPARC Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPARC DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	SPART Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPAST DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SPATA5 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	SPATA5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	SPATA5 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	SPATA5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	SPATA5L1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked, new-gene-name
Green	SPATA5L1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked, new-gene-name
Green	SPATA5L1 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked, new-gene-name
Green	SPATA5L1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked, new-gene-name
Green	SPECC1L Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SPECC1L Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SPECC1L DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SPEG DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPEN DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SPEN Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SPG11 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPG11 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPG7 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	SPOP Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	SPOP DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SPR Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	SPR DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPR Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	SPRED1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SPRED1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SPRED2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPRED2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPTAN1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SPTAN1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SPTAN1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SPTBN1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SPTBN1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SPTBN1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SPTBN2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPTBN2 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SPTBN4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPTBN4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPTLC1 Likely inborn error of metabolism - targeted testing not possible	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SPTLC2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SPTLC2 Likely inborn error of metabolism - targeted testing not possible	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SRCAP DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SRCAP Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SRD5A3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SRD5A3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SRD5A3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SRP54 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SRRM2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SRRM2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SRY DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	y-chromosome
Green	SSBP1 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SSR4 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SSR4 Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ST14 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ST3GAL3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ST3GAL3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ST3GAL3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ST3GAL3 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ST3GAL5 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ST3GAL5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ST3GAL5 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ST3GAL5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STAC3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STAG1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	STAG1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	microdeletion
Green	STAG1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	STAG2 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	STAG2 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	STAMBP Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STAMBP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STAMBP Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STAMBP DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STAR DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STAT5B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STIL DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STIL Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STN1 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STN1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STRA6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STRA6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STRADA Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STRADA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STRADA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	deletions
Green	STRC Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STS DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	STS Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	STT3A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	STT3A Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	STT3A Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	STT3A Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	STX1B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	STX1B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	STX1B Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	STXBP1 Early onset or syndromic epilepsy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	STXBP1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	STXBP1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SUCLA2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUCLA2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUCLG1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUCLG1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUCLG1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUFU DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	SUFU Ophthalmological ciliopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SUFU Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SUFU Neurological ciliopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SUMF1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUMF1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUMF1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUMF1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUOX Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUOX Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUOX DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUOX Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUPT16H Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SURF1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SURF1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SURF1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SURF1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUZ12 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SUZ12 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SVBP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	SYN1 Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	SYN1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SYN1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SYNCRIP Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	SYNE1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SYNE4 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SYNGAP1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SYNGAP1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SYNGAP1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SYNJ1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SYNJ1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SYP Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SYP DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SYT1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SYT1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	de novo
Green	SYT2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SZT2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SZT2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SZT2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAB2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TAC3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	TACO1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TACO1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TACR3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	TAF1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	TAF1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	TAF13 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	TAF2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAF4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TAF6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAF8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAF8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAF8 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TALDO1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TALDO1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TANC2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TANGO2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TANGO2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TANGO2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TANGO2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAOK1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TAOK1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TAPT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAPT1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TARS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TARS2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TASP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TASP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAT Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAZ DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	TAZ Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	TAZ Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	TBC1D20 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBC1D20 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBC1D23 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBC1D23 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBC1D24 Monogenic hearing loss	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TBC1D24 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBC1D24 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBC1D24 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBC1D2B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TBC1D2B Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TBC1D32 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TBCD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBCD DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBCD Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBCE Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBCE DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBCE Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBCK DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBCK Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBCK Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBL1XR1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TBL1XR1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBL1XR1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBR1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBR1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TBX1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	deletions, structural-variant
Green	TBX1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBX15 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBX15 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBX18 Paediatric disorders - additional genes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBX18 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBX20 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBX22 Clefting	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	TBX22 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	TBX3 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBX3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBX3 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TBX4 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TBX4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBX4 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBX5 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBX5 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBX5 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TBX6 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TBXAS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	TBXAS1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCEAL1 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	TCEAL1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Other	de novo
Green	TCF12 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TCF20 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TCF20 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	de novo
Green	TCF4 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TCF4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TCF4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TCF7L2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TCF7L2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TCIRG1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCN2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCN2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCN2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCOF1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TCOF1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TCOF1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TCTEX1D2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TCTEX1D2 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TCTN1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN2 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN2 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN2 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN3 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN3 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN3 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN3 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TDP2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TDP2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TECPR2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TECPR2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TECTA Monogenic hearing loss	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TEK DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TELO2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	TELO2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TELO2 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TENM3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TERC DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TERT Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TERT DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	TET3 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TET3 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TFAM Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TFAP2A Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TFAP2A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TFAP2B Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TFAP2B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TFE3 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Other	N/A
Green	TFE3 Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	Skewed X-inactivation
Green	TFE3 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	Skewed X-inactivation
Green	TFR2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TGDS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TGDS Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TGDS Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TGFB1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TGFB1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TGFB2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TGFB2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TGFB3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TGFB3 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TGFBR1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TGFBR1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TGFBR2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TGFBR2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TGFBR2 Clefting	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TGIF1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TGIF1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TH Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	TH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	THAP1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	THOC2 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Other	N/A
Green	THOC2 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	THOC6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	THOC6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	THRA Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	THRA DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	THUMPD1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	THUMPD1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TIAM1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TIAM1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TIMM50 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TIMM50 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TIMM50 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TIMM8A Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	TIMM8A DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	TIMM8A Monogenic hearing loss	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	TIMMDC1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TINF2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TK2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	TK2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TKT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TLK2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TLK2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TMC1 Monogenic hearing loss	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TMCO1 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMCO1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMCO1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMCO1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM106B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TMEM106B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	missense
Green	TMEM107 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM107 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM107 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM126B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM126B Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM138 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM138 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM138 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM147 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM147 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM163 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	gene-checked, de novo
Green	TMEM165 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM165 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM165 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM165 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM199 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM199 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM216 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	TMEM216 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM216 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM216 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM216 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM216 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM218 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TMEM218 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TMEM218 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TMEM222 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TMEM222 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TMEM222 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TMEM231 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM231 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM231 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM231 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM237 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM237 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM237 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM237 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM237 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM240 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TMEM240 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TMEM251 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked, new-gene-name
Green	TMEM260 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM260 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM38B Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TMEM5 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TMEM5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TMEM63A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	gene-checked
Green	TMEM63C Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TMEM63C DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TMEM67 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM67 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM67 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM67 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM67 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM67 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM70 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM70 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM70 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM94 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TMEM94 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TMIE Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMPRSS3 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMPRSS6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMTC3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMTC3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMX2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMX2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMX2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TNFRSF11A Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	for-review, to_be_confirmed_NHSE
Green	TNFRSF11B Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TNFRSF13B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TNFSF11 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TNNT3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TNPO2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TNPO2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TNRC6B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TNRC6B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TOE1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TOE1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TOGARAM1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TOGARAM1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TONSL Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TOP3A Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TOP3A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TOR1A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TOR1AIP1 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TP53RK DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TP63 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TP63 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TP63 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TP63 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TP73 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TP73 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TPK1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TPM2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TPM3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TPP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TPP1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TPP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TPP1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TPP2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TPP2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TPRN Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRA2B Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	TRA2B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	gene-checked
Green	TRA2B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	TRAF3IP1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAF3IP1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAF7 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TRAF7 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TRAIP DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAIP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAK1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAP1 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TRAP1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TRAPPC11 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAPPC12 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAPPC12 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	polygenic
Green	TRAPPC12 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAPPC2 Skeletal dysplasia	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	TRAPPC2 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	TRAPPC4 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAPPC4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAPPC4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAPPC6B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAPPC9 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAPPC9 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAPPC9 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TREM2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TREX1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TREX1 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TREX1 Early onset or syndromic epilepsy	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	TREX1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TRIM32 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIM37 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIM37 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIM37 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIM8 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TRIM8 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TRIM8 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TRIO Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TRIO DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TRIOBP Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIP11 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIP11 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIP12 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TRIP12 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TRIP13 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIP4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	gene-checked
Green	TRIT1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TRIT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TRMT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRMT10A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRMT10A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRMT10C Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRMT10C DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	TRMT5 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRMU Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRNT1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRNT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRNT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRPM1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRPM3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TRPM3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	missense
Green	TRPM3 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	missense
Green	TRPM6 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRPM6 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRPS1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TRPS1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TRPS1 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TRPV3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TRPV4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TRPV4 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TRPV4 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TRPV6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRPV6 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRRAP Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	TRRAP DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TSC1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	mosaicism
Green	TSC1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TSC1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TSC2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TSC2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TSC2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TSEN15 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	TSEN2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	TSEN2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSEN34 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSEN34 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	TSEN54 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSEN54 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSEN54 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSFM Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSFM Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSHB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSHB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSHR DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	TSPAN7 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	TSPAN7 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	TSPYL1 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC19 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC19 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC19 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC21B Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC21B Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC21B Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist_moi
Green	TTC25 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TTC37 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TTC37 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TTC37 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TTC5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TTC5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TTC7A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC8 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC8 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC8 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC8 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTI2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	TTI2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTN Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTN DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTPA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TUBA1A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TUBA1A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBA1A Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TUBB Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TUBB Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBB DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TUBB2A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TUBB2A Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TUBB2A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBB2B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TUBB2B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBB2B Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TUBB3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBB3 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TUBB3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TUBB4A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TUBB4A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBB4A Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TUBG1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TUBG1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TUBG1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TUBGCP2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TUBGCP2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	gene-checked
Green	TUBGCP4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TUBGCP6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TUBGCP6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TUFM Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TUFM DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	TUSC3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TUSC3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TUSC3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TWIST1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TWIST1 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TWIST1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TWIST1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TWIST2 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TWNK Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TXNDC15 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TXNDC15 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TXNDC15 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TXNL4A Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TXNL4A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TYMP Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TYR DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TYROBP Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TYRP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	U2AF2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	UBA2 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	UBA5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBA5 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBA5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBAP2L Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	UBAP2L Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	UBAP2L DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	UBE2A Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	UBE2A Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	UBE2A DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	UBE2T DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBE2T Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBE3A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	N/A	N/A
Green	UBE3A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	N/A	N/A
Green	UBE3A Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	N/A	N/A
Green	UBE3B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBE3B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBE4A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBE4A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBR1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBR1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBR7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	UBR7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBR7 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBTF Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	UBTF DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	UFC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	UFM1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	de novo
Green	UFM1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UFM1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UFSP2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	UFSP2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	UFSP2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	Loss-of-function variants DO NOT cause this phenotype	founder-effect
Green	UGDH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UGDH Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UGP2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UGP2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UGP2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UGT1A1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UGT1A1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UMOD Likely inborn error of metabolism - targeted testing not possible	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	UMPS Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UMPS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UMPS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UNC45A Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UNC45A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UNC45B DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	UNC80 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UNC80 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UNC80 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UPB1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UPF1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	UPF3B DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	UPF3B Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	UQCC2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UQCRB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UQCRB Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UQCRC2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UQCRFS1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UQCRFS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UQCRQ DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	UROC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	UROC1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UROD Likely inborn error of metabolism - targeted testing not possible	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	UROS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UROS Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	USB1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	USH1C Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	USH1G Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	USH2A Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	USP18 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	USP18 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	USP27X DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	USP48 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	USP7 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	USP7 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	USP9X DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	USP9X Limb disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	USP9X Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	USP9X Clefting	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	UVSSA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VAMP2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	VAMP2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	VAMP2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	VARS Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	VARS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	VARS2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VARS2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VDR Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VDR DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VIPAS39 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VIPAS39 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VKORC1 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	VLDLR DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VLDLR Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS11 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS11 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS13B Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS13B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS13B Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS13B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS33B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS33B Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS41 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS4A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	VPS4A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	VPS53 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	VPS53 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VRK1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VRK1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VSX2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WAC DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	WAC Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	WARS DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	new-gene-name
Green	WARS2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WARS2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WARS2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WASF1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	WASF1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	WASF1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	WASHC5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WBP11 Paediatric disorders - additional genes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	WBP11 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	WDFY3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	WDFY3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	WDPCP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDPCP Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDPCP Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDPCP Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDPCP Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDPCP DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR11 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	WDR19 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR19 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR19 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR19 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR19 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR26 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	WDR26 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	WDR34 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	WDR34 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	new-gene-name
Green	WDR34 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	WDR35 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR35 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR35 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR35 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR37 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	missense, gene-checked
Green	WDR37 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	missense, gene-checked
Green	WDR37 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	gene-checked
Green	WDR4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR45 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	WDR45 Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	WDR45 Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	WDR45 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	WDR45B DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	WDR45B Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR45B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR5 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	gene-checked, de novo
Green	WDR60 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	WDR60 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	WDR60 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	WDR60 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	WDR60 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	WDR62 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR62 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR73 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR73 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR73 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR81 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WFS1 Monogenic hearing loss	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	WFS1 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	WFS1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	WHRN Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WIPI2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WISP3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	WNK3 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	gene-checked
Green	WNK3 Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	gene-checked
Green	WNK3 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	gene-checked
Green	WNT1 Skeletal dysplasia	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	WNT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WNT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WNT10B Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WNT10B Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WNT10B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WNT3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WNT4 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	WNT5A Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	WNT5A Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	WNT5A Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	WNT5A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	WNT7A DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	WNT7A Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WNT7A Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WRAP53 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	WT1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	WWOX DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WWOX Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WWOX Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XDH Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XPA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XPC DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XPNPEP3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XPNPEP3 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XRCC4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XRCC4 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XRCC4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XYLT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XYLT1 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XYLT1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XYLT1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XYLT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XYLT2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XYLT2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XYLT2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	YAP1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	YARS2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	YARS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	YIF1B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	YIPF5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	YIPF5 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	YRDC DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	YWHAG DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	YWHAG Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	YWHAG Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	YY1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	YY1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	YY1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZBTB18 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZBTB18 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZBTB18 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZBTB20 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZBTB20 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ZBTB24 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZBTB7A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZC4H2 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ZC4H2 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ZDHHC9 Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ZDHHC9 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ZDHHC9 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ZEB2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZEB2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZEB2 Clefting	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZEB2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZFHX4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZFHX4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZFP57 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZFYVE19 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	ZFYVE26 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZFYVE26 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZIC1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ZIC1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ZIC2 Clefting	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZIC2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZIC2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZIC3 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ZIC3 Limb disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ZIC3 Clefting	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ZMIZ1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZMIZ1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZMPSTE24 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZMPSTE24 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZMYM2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZMYM2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZMYM3 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ZMYM3 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ZMYND10 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZMYND11 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZMYND11 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZMYND8 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	gene-checked
Green	ZMYND8 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	ZNF142 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZNF142 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZNF142 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZNF148 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZNF292 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZNF292 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZNF335 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZNF335 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZNF462 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZNF462 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZNF526 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZNF687 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	ZNF699 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZNF711 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ZNF711 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ZNF750 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZSWIM6 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZSWIM6 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	mosaicism, curated-variant-list
Green	ZSWIM6 Skeletal ciliopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	ZSWIM6 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZSWIM6 Neurological ciliopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	ZSWIM6 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ZSWIM6 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	mosaicism, missense

Paediatric disorders (Version: 35.143135.224.214.43)

Paediatric disorders (Version: )