Genomics England

Bilateral congenital or childhood onset cataracts (Version: )

Relevant disorders: Cataracts, R31

Signed off date: 22 Mar 2023

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

115 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ABHD12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAMTS10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGPS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH18A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ANAPC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATAD3A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GLCT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCOR	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	BFSP1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	BFSP2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CDK9	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	CHMP4B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	COG4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	COL11A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL18A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL2A1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	COL4A1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CRYAA	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CRYAB	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CRYBA1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CRYBA4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CRYBB1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CRYBB2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CRYBB3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CRYGC	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CRYGD	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CRYGS	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CYP27A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP51A1	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	DHCR7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNMBP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPHA2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ERCC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAM126A	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	FAR1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FOXE3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FTL	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FYCO1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALK1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GCNT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFER	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GJA3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GJA8	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GNPAT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTF2H5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HMX1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSF4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HTRA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INPP5K	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INTS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	JAM3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LCAT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIM2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LONP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LSS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAF	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MAN2B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MED27	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MIP	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MIR184	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	locus-type-rna-micro
Green	MSMO1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYH9	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NACC1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NDP	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	NF2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NHS	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	NUP188	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	OPA3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	P3H2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PAX6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIK3C2A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PITX3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PLOD3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLG	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PXDN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB18	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB3GAP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB3GAP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SC5D	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SIL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC16A12	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SLC2A1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SLC33A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SRD5A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SREBF1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TDRD7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TFAP2A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	VIM	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	VPS4A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	VSX2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WFS1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	WRN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XYLT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZNF526	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Bilateral congenital or childhood onset cataracts (Version: 4.03.02.762.2)

Bilateral congenital or childhood onset cataracts (Version: )