Genomics England

Retinal disorders (Version: )

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

Relevant disorders: Posterior segment abnormalities, Cone Dysfunction Syndrome, Developmental macular and foveal dystrophy, Inherited macular dystrophy, Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy, Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy, Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy, Rod Dysfunction Syndrome, Rod-cone dystrophy, Familial exudative vitreoretinopathy, Familial exudative retinopathy, R32, R33, R34, R35

Signed off date: 25 Feb 2020

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

See this panel in PanelApp

201 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ABCA4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABHD12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACO2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAM9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAMTS18	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADGRV1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGBL5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AHI1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AIPL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AIRE	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ALMS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARHGEF18	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL2BP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATF6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATOH7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BEST1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	C1QTNF5	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	C21orf2	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C2orf71	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C8orf37	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CABP4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1F	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	CACNA2D4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CAPN5	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CC2D2A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDH23	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDH3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDHR1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP164	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP290	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP78	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CERKL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CFH	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHM	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	gene-therapy-trial
Green	CIB2	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	CLRN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CNGA1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CNGA3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CNGB1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CNGB3	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-therapy-trial
Green	CNNM4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL18A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL4A1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CRB1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRX	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CSPP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTNNB1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CTSD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CWC27	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP4V2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHDDS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EFEMP1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ELOVL4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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	EYS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAM161A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FLVCR1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FZD4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GNAT1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GNAT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPTG	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPR143	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	GPR179	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRK1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRM6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GUCA1A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GUCA1B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GUCY2D	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HARS	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
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	HGSNAT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HMX1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IDH3A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IDH3B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT140	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IKBKG	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	IMPDH1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	IMPG1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	IMPG2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	INPP5E	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IQCB1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KCNJ13	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	KCNV2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA1549	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	KIF11	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KIZ	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KLHL7	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	LCA5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRAT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRIT3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRP5	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LZTFL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MERTK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MFRP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MFSD8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKKS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYO7A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDP	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	NMNAT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NR2E3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	NRL	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	NYX	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	OAT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OFD1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	OPN1LW	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	OPN1MW	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	OTX2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PANK2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCDH15	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCYT1A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDE6A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDE6B	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PDE6C	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDE6G	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHYH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLA2G5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POC1B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRCD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PROM1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PRPF3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PRPF31	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PRPF4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PRPF6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PRPF8	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PRPH2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PRPS1	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	RAB28	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAX2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RBP3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RBP4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RCBTB1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RD3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RDH12	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RDH5	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	REEP6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RGS9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RHO	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RLBP1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RP1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RP1L1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RP2	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	RP9	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPE65	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-therapy-trial
Green	RPGR	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	gene-therapy-trial
Green	RPGRIP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPGRIP1L	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RS1	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	SAG	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCAPER	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDCCAG8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC24A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC38A8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SNRNP200	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SPATA7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SRD5A3	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	TIMP3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TMEM237	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TOPORS	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TPP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIM32	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRPM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSPAN12	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TTC8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTLL5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TUB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TULP1	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	VCAN	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	VPS13B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDPCP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WHRN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZNF408	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ZNF423	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A

Retinal disorders (Version: 4.03.02.1952.7)

Retinal disorders (Version: )