Genomics England

Monogenic hearing loss (Version: )

There is a more recent signed-off version of this panel

Relevant disorders: Hearing loss, Congenital hearing impairment, Autosomal dominant deafness, Congenital hearing impairment (profound/severe), Non-syndromic hearing loss, R67

Signed off date: 30 Nov 2022

Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off

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135 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ABHD12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACTG1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ADGRV1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	Q1_22_MOI
Green	AIFM1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ALMS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP6V1B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP6V1B2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BCS1L	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BSND	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CABP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC50	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CDC14A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDH23	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEACAM16	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	Q4_21_MOI
Green	CEP250	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP78	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHD7	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CIB2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CISD2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLDN14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLPP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLRN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COCH	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL11A1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	COL11A2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL2A1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	COL4A5	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	COL9A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL9A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DFNA5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	DFNB59	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	DIAPH1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DMXL2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DNMT1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DSPP	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EDN3	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	EDNRB	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	EPS8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPS8L2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ESPN	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ESRRB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EYA1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EYA4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FDXR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FGF3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOXI1	BIALLELIC, autosomal or pseudoautosomal	N/A	Q1_22_expert_review, Q1_22_MOI
Green	GATA3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GIPC3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GJB2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GJB3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	for-review, to_be_confirmed_NHSE
Green	GPSM2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRHL2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GRXCR1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HAAO	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	HARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HOXA2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HSD17B4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ILDR1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KARS	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KCNE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KCNJ10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KCNQ1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KCNQ4	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	KIT	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	LARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LHFPL5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LMX1A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	Q1_22_MOI
Green	LOXHD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRTOMT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MARVELD2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MASP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MITF	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	MN1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MPZL2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MSRB3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MT-RNR1	MITOCHONDRIAL	N/A	locus-type-rna-ribosomal, gene-checked
Green	MT-TS1	MITOCHONDRIAL	N/A	gene-checked
Green	MYH14	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYH9	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYO15A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYO3A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYO6	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MYO7A	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	OPA1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	OSBPL2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	OTOA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OTOF	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OTOG	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OTOGL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	P2RX2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PAX2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PAX3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PCDH15	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDZD7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLS1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PNPT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POU3F4	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	POU4F3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRPS1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PTPRQ	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RDX	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	S1PR2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SALL1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SALL4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SERAC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SERPINB6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGPL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SIX1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SLC12A2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC17A8	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SLC26A4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC26A5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC4A11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC52A2	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	SLC52A3	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	SLITRK6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMPX	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	SOX10	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SOX2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	for-review, to_be_confirmed_NHSE
Green	SPATA5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STRC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SYNE4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBC1D24	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TECTA	BOTH monoallelic and 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	TMC1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TMIE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMPRSS3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TPRN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIOBP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	USH1C	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	USH1G	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	USH2A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WFS1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	WHRN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Monogenic hearing loss (Version: 4.234.03.02.5)

Monogenic hearing loss (Version: )