Genomics England

Likely inborn error of metabolism - targeted testing not possible (Version: )

Relevant disorders: Likely inborn error of metabolism - targeted testing not possible, Likely inborn error of metabolism, Inborn errors of metabolism, R98

Signed off date: 6 Dec 2023

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

See this panel in PanelApp

737 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	AARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AASS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABAT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCA1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCB11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCB4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ABCB7	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ABCD1	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	ABCD4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCG5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCG8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABHD12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABHD5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACAD8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACAD9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADSB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADVL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACAT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACO2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ACOX1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACSF3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACY1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAR	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ADSL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AFG3L2	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	AGA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGPS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGXT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AHCY	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	AIFM1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	AKR1D1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALAD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALAS2	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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH3A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH4A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH5A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH6A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH7A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDOA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDOB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALPL	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	AMACR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANO10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APOA1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	APOA5	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	APOB	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	APOC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APOE	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	APOPT1	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	APRT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APTX	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSE	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	ASAH1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASPA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATAD3A	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ATIC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP13A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP5A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ATP5D	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ATP5G3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	ATP5O	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ATP6AP1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ATP6V0A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP7A	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ATP7B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP8B1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ATPAF2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AUH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GALNT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GALT6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GAT3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GLCT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALNT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALT7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BAAT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCAT2	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	BCKDHA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDHB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCS1L	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BOLA3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BTD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C12orf65	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C19orf12	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	C19orf70	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C1QBP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CA5A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CAT	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CBS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC115	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHCHD10	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHKB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHSY1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CISD2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLDN16	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLDN19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLPB	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CLPP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CNNM2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COA6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COA7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ8A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ8B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX15	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX20	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX6A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX6B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX7B	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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPOX	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CPS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPT1A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPT2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CRLS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSGALNACT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTNS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CUBN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP27A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP7B1	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	D2HGDH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DARS	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	DARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DBH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DBT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCXR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DGUOK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR24	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHFR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHODH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHTKD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLAT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DMPK_CTG STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	DNA2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNAJC12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNM1L	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DNM2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DOLK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPAGT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPYD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPYS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EBP	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	ECHS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EHBP1L1	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	ELAC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ENO3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EOGT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPG5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPM2A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFDH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETHE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXT1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EXT2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FA2H	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FASTKD2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBXL4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FDX2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FDXR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FECH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FGFR2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKRP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKTN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FLAD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FMO3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOLR1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOXRED1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FTCD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FUCA1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FUT8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FXN	BIALLELIC, autosomal or pseudoautosomal	N/A	nucleotide-repeat-expansion
Green	FXN_GAA STR	BIALLELIC, autosomal or pseudoautosomal	N/A	STR
Green	G6PC	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	G6PC3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GABRG2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GALC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALK1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALNS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALNT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALNT3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAMT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GARS	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	GATM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GBA	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	GBE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GCDH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GCH1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GCLC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GCSH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GDAP1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	GFER	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFM2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFPT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GIF	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	GK	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GLA	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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLDC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLRA1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GLRX5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLS	BIALLELIC, autosomal or pseudoautosomal	N/A	STR, watchlist_moi
Green	GLUD1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	GLUL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLYCTK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GM2A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNE	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GNMT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPAT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPTAB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPTG	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GORAB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPHN	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GRHPR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GSS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTPBP3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GUSB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GYG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GYS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GYS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HAAO	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HADH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HADHA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HADHB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HAMP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HCCS	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	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	HEXA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HFE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HFE2	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	HGD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HGSNAT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HIBCH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HLCS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HMBS	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HMGCL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HMGCS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HOGA1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HPD	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HPRT1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	HPS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HS2ST1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSD17B10	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	HSD17B4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSD3B7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSPD1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	HTRA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HYAL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IBA57	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IDH2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	IDS	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	IDUA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IER3IP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA-37440-Loss 2p21 region (includes PREPL and SLC3A1) Loss region	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCU	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	non-coding-known-pathogenic
Green	ISPD	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ITPA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IVD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KARS	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KYNU	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	L2HGDH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMP2	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	LARGE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LARS	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	LARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LBR	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LCAT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LCT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LDHA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LDLR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	LDLRAP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LETM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIAS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIPA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIPT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIPT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LMBRD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LONP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LPIN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LPL	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LRPPRC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LYRM4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LYRM7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAGT1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	MAN1B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAN2B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MANBA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAOA	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	MARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAT1A	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MCCC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCCC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCEE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCOLN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MDH2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MECR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MFF	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MFN2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MFSD8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MGAT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MGME1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MICU1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MIPEP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MLYCD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMAA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMAB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMACHC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMADHC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MOCS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MOCS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MOGS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPDU1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPI	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPV17	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRPL3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRPL44	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRPS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRPS22	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRPS34	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MSMO1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MSTO1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MT-ATP6	MITOCHONDRIAL	N/A	gene-checked
Green	MT-ATP8	MITOCHONDRIAL	N/A	gene-checked
Green	MT-CO1	MITOCHONDRIAL	N/A	gene-checked
Green	MT-CO2	MITOCHONDRIAL	N/A	gene-checked
Green	MT-CO3	MITOCHONDRIAL	N/A	gene-checked
Green	MT-CYB	MITOCHONDRIAL	N/A	gene-checked
Green	MT-ND1	MITOCHONDRIAL	N/A	gene-checked
Green	MT-ND2	MITOCHONDRIAL	N/A	gene-checked
Green	MT-ND3	MITOCHONDRIAL	N/A	gene-checked
Green	MT-ND4	MITOCHONDRIAL	N/A	gene-checked
Green	MT-ND4L	MITOCHONDRIAL	N/A	gene-checked
Green	MT-ND5	MITOCHONDRIAL	N/A	gene-checked
Green	MT-ND6	MITOCHONDRIAL	N/A	gene-checked
Green	MT-RNR1	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TA	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TC	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TD	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TE	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TF	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TG	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TH	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TI	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TK	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TL1	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TL2	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TM	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TN	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TP	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TQ	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TR	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TS1	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TS2	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TV	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TW	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TY	MITOCHONDRIAL	N/A	gene-checked
Green	MTFMT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTHFR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTO1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTPAP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTRR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTTP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MUT	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	MVK	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	NADK2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAGA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAGLU	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAGS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAXD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAXE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA1	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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA13	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF8	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	NDUFB10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFB11	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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFB8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFV1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFV2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEU1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NFS1	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	NFU1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NGLY1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NHLRC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NNT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NSDHL	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	NSUN3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NT5C3A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUBPL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OAT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OCRL	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	OGDH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OPA1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	OPA3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	OTC	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	OXCT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PAH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PANK2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCBD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCCA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCCB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCK1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCSK9	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PDHA1	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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDHX	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDK3	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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDSS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDSS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEPD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PET100	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX11B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX13	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX16	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX26	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX6	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	PEX7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PFKM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAM2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAP3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGK1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PGM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGM3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHGDH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHKA1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PHKA2	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PHKB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHKG2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHYH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGA	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Skewed X-inactivation
Green	PIGL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGO	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGV	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PINK1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLA2G6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMM2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMPCA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMPCB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPLA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPLA8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPO	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLG	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POLG2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPOX	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PPT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRKAG2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRODH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRPS1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PSAP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSAT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PUS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYCR1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYGL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYGM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	QDPR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	QRSL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RBCK1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RBP4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RFT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RMND1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASEH1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPIA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPL10	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	RRM2B	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RTN4IP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SACS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SAMHD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SAR1B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SC5D	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCO1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCO2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDHA	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SDHAF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDHB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDHD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SEC23B	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	Q4_23_MOI
Green	SERAC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SETX	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SFXN4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGSH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SHMT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SI	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SKIV2L	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	SLC12A3	BIALLELIC, autosomal or pseudoautosomal	N/A	monogenic-polygenic
Green	SLC16A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC17A5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC18A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC19A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC19A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC22A5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A13	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A15	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A20	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A22	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A26	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A32	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	SLC25A38	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A42	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A46	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC2A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC2A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC30A10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35A2	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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35D1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC37A4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC39A14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC39A4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC39A8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC3A1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	SLC40A1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SLC46A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC52A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC52A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC5A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC5A6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC6A19	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC6A20	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	gene-checked, refuted, Q4_23_demote_red
Green	SLC6A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC6A8	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SLC7A7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC7A9	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	SMPD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPG7	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	SPR	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	SPTLC1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SPTLC2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SRD5A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SSBP1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SSR4	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ST3GAL3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ST3GAL5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STS	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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SUCLA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUCLG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUMF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUOX	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SURF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TACO1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TALDO1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TANGO2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAZ	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	TCN2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TFAM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TFR2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TH	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	TIMM50	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TIMM8A	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	TIMMDC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TK2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM126B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM165	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM199	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM5	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TMEM70	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TOP3A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TPK1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TPP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAP1	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TREX1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TRIM37	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIT1	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TRMT10C	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRMT5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRMU	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRNT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRPM6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSFM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC37	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TTPA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TUFM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TUSC3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TWNK	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TYMP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UGT1A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UMOD	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	UMPS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UPB1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UQCC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UQCRB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UQCRC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UQCRFS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UROD	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	UROS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VIPAS39	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VKORC1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	VPS33B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR45	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	WFS1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	XDH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XPNPEP3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XYLT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XYLT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	YARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Likely inborn error of metabolism - targeted testing not possible (Version: 4.784.03.02.3)

Likely inborn error of metabolism - targeted testing not possible (Version: )