The latest signed off version for the GMS is v4.0. The current version, shown here, may differ from the signed-off version.

Retinal disorders (Version 4.42)

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders

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, Sorsby retinal dystrophy, Doyne retinal dystrophy, R32
Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
Latest signed off version: v4.0 (22 Mar 2023)
Previously signed off versions: v3.0, v2.195, v2.7
Previous code: 56e0238b22c1fc09c97a6e46

Description

This panel is used as a virtual panel to analyse genome data in the NHS Genomic Medicine Service; the panel will routinely be applied for clinical indication 'R32 Retinal disorders' but can also be used as part of the analysis for a broader clinical presentation, where relevant.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R32 Retinal disorders’.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

This is a combined panel for posterior segment abnormalities. This includes the disorders: 
- Cone Dysfunction Syndrome 
- Developmental macular and foveal dystrophy 
- Inherited macular dystrophy
- Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy 
- Rod Dysfunction Syndrome 
- Rod-cone dystrophy
- Familial exudative retinopathy

This panel includes BRIDGE consortium Tier 1 genes from NIHR BioResource - Rare Diseases Study (NIHRBR-RD) sent by Karyn Megy, WGS Clinical Feedback Lead which incorporates pertinent genes
from the Specialist Pathology: Evaluating Exomes in Diagnostics (SPEED_RETIN) project and covers retinal dystrophy.

The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge, Keren Carss,Alba Sanchis-Juan, Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust

Panel Activity

33 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Tom Cullup (Great Ormond Street Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Simon Ramsden (NHS)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Andrew Webster (Moorfields Eye Hospital)

Group: GeCIP domain
Workplace: NHS clinical service
Robert Henderson (Great Ormond Street Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Richard Scott (Genomics England Curator)

Group: Other
Workplace: Other
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Group: Other
Workplace: Research lab
Ellen Thomas (Genomics England Curator)

Group: Other
Workplace: Other
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Kirsty McCaffrey (Manchester Centre for Genomic Medicine)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Stephanie Barton (Manchester Centre for Genomic Medicine)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Mervyn Thomas (University of Leicester)

Group: GeCIP domain
Workplace: Research lab
Panagiotis Sergouniotis (Academic Clinic Fellow)

Group: GeCIP domain
Workplace: NHS clinical service
Gabrielle Wheway (University of the West of England)

Group: GeCIP domain
Workplace: Research lab
Rebecca Foulger (Genomics England curator)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
BRIDGE consortium (NIHRBR-RD)

Group: Other
Workplace: Other
Chris Campbell (GEL)

Group: Other
Workplace: Other
Neringa Jurkute (MD)

Group: Other NHS organisation
Workplace: NHS clinical service
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Ronnie Wright (North West GLH)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Catherine Snow (Genomics England)

Group: Other
Workplace: Other
Mohammed Abdallah (Divsion of Human Genetics, university of Cape Town)

Group: Other
Workplace: Research lab
Mehdi Montazer (Mashhad University of Medical Sciences)

Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Hannah Knight (Moorfields Eye Hospital)

Group: Other NHS organisation
Workplace: NHS clinical service
Mohammed Derar (University of Leeds)

Group: GeCIP domain
Workplace: Research lab
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other
Siying Lin (Moorfields Eye Hospital)

Group: GeCIP domain
Workplace: NHS clinical service
Hannah Knight (NIHR BioResource - University of Cambridge)

Group: Other
Workplace: Research lab

420 Entities

420 reviewed, 261 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 420 Entitiess
Green Green List (high evidence)	ABCA4	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Achromatopsia, Cone, and Cone-rod Dystrophy Macular Dystrophy/Degeneration/Stargardt Disease Stargardt disease 1, 248200 Macular Degeneration (Dominant) Stargardt Disease, Recessive Retinitis pigmentosa 19, 601718 Cone-rod dystrophy 3, 604116 Macular degeneration, age-related, 2, 153800 Fundus flavimaculatus, 248200 Retinal dystrophy, early-onset severe, 248200 Retinitis pigmentosa Retinitis Pigmentosa, Recessive Stargardt disease 1, 248200Retinitis pigmentosa 19, 601718Cone-rod dystrophy 3, 604116Macular degeneration, age-related, 2, 153800Fundus flavimaculatus, 248200Retinal dystrophy, early-onset severe, 248200 Eye Disorders Retinitis pigmentosa 19, 601718 Cone-rod dystrophy 3, 604116 Macular degeneration, age-related, 2, 153800 Fundus flavimaculatus, 248200 Retinal dystrophy, early-onset severe, 248200 Macular Degeneration Stargardt Disease 1 STGD1 Tags
Green Green List (high evidence)	ABCC6	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS RetNet Phenotypes Pseudoxanthoma elasticum, OMIM:264800 inherited pseudoxanthoma elasticum, MONDO:0100091 Tags
Green Green List (high evidence)	ABHD12	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC) Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857 Tags
Green Green List (high evidence)	ACBD5	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Retinal dystrophy with leukodystrophy, OMIM:618863, MONDO:0030026 Tags
Green Green List (high evidence)	ACO2	5 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Infantile cerebellar-retinal degeneration, 614559 Tags
Green Green List (high evidence)	ADAM9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Achromatopsia, Cone, and Cone-rod Dystrophy Eye Disorders Cone-Rod Dystrophy, Recessive Cone-rod dystrophy 9, 612775 Tags
Green Green List (high evidence)	ADAMTS18	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Genetic Retinal Degeneration Conditions Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 Tags
Green Green List (high evidence)	ADGRV1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Usher syndrome, type 2C, 605472 Eye Disorders Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 Tags
Green Green List (high evidence)	AFG3L2	4 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS RetNet Phenotypes Optic atrophy 12, OMIM:618977, MONDO:0033549 Spastic ataxia 5, autosomal recessive, OMIM:614487 Tags
Green Green List (high evidence)	AGBL5	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Retinitis pigmentosa 75, 617023 Tags
Green Green List (high evidence)	AHI1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Joubert syndrome 3, 608629 Tags
Green Green List (high evidence)	AIPL1	5 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cone-rod dystrophy, OMIM:604393 Retinitis pigmentosa, juvenile, OMIM:604393 Leber congenital amaurosis 4, OMIM:604393 Tags
Green Green List (high evidence)	AIRE	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 Tags
Green Green List (high evidence)	ALDH3A2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Sjogren-Larsson syndrome, OMIM:270200 Tags
Green Green List (high evidence)	ALMS1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Alstrom syndrome, 203800 Tags
Green Green List (high evidence)	ALPK1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes ROSAH syndrome, OMIM:614979 Tags
Green Green List (high evidence)	AMACR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Retinitis pigmentosa, MONDO:0019200 Alpha-methylacyl-CoA racemase deficiency, OMIM:614307 Tags
Green Green List (high evidence)	ARHGEF18	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Retinitis pigmentosa 78 617433 Tags
Green Green List (high evidence)	ARL13B	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Joubert syndrome 8, OMIM:612291, MONDO:0012855 Tags
Green Green List (high evidence)	ARL2BP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Retinitis pigmentosa with or without situs inversus, 615434 Tags
Green Green List (high evidence)	ARL3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS RetNet Phenotypes Joubert syndrome 35, OMIM:61816 cone-rod dystrophy, MONDO:0015993 Retinitis pigmentosa 83, OMIM:618173 Tags
Green Green List (high evidence)	ARL6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Bardet-Biedl syndrome 3, 209900 {Bardet-Biedl syndrome 1, modifier of}, 209900 Retinitis pigmentosa 55, 613575 Retinitis Pigmentosa, Recessive Tags
Green Green List (high evidence)	ARSG	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS RetNet Phenotypes Usher syndrome, type IV, OMIM:618144 Tags
Green Green List (high evidence)	ATF6	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Achromatopsia 7, 616517 Tags
Green Green List (high evidence)	ATOH7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Persistent hyperplastic primary vitreous, autosomal recessive, 221900 multiple ocular developmental defects, including severe vitreoretinal dysplasia, optic nerve hypoplasia, persistent fetal vasculature, microphthalmia, congenital cataracts, microcornea, corneal opacity and nystagmus Tags
Green Green List (high evidence)	BBS1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Bardet-Biedl syndrome 1 OMIM:209900 Bardet-Biedl syndrome 1 MONDO:0008854 Tags
Green Green List (high evidence)	BBS10	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Bardet-Biedl syndrome 10, 615987 Tags
Green Green List (high evidence)	BBS12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Bardet-Biedl syndrome 12, 615989 Tags
Green Green List (high evidence)	BBS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Bardet-Biedl syndrome 2, 615981 Retinitis pigmentosa 74, 616562 Tags
Green Green List (high evidence)	BBS4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Bardet-Biedl syndrome 4, 615982 Tags
Green Green List (high evidence)	BBS5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Bardet-Biedl syndrome 5, 615983 Tags
Green Green List (high evidence)	BBS7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Bardet-Biedl syndrome 7, 615984 Tags
Green Green List (high evidence)	BBS9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Bardet-Biedl syndrome 9, 615986 Tags
Green Green List (high evidence)	BEST1	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Green NHS GMS Phenotypes ?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2, OMIM:193220 Bestrophinopathy, autosomal recessive , OMIM:611809 Macular dystrophy, vitelliform, 2, OMIM:153700 Retinitis pigmentosa, concentric, OMIM:613194 Retinitis pigmentosa-50, OMIM:613194 Vitreoretinochoroidopathy, OMIM:193220 Tags
Green Green List (high evidence)	C1QTNF5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Retinal Degeneration Retinitis pigmentosa Retinal degeneration, late-onset, autosomal dominant, 605670 Tags
Green Green List (high evidence)	C21orf2	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Retinal dystrophy with macular staphyloma, 617547 Tags new-gene-name
Green Green List (high evidence)	C2orf71	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Retinitis pigmentosa 54, 613428 Retinitis pigmentosa Retinitis Pigmentosa, Recessive Tags new-gene-name
Green Green List (high evidence)	C8orf37	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Bardet-Biedl syndrome 21, OMIM:617406, MONDO:0044308 Cone-rod dystrophy 16, OMIM:614500, MONDO:0013786 Retinitis pigmentosa 64, OMIM:614500, MONDO:0019200 Tags new-gene-name
Green Green List (high evidence)	CABP4	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Achromatopsia, Cone, and Cone-rod Dystrophy Cone-rod synaptic disorder, congenital nonprogressive Congenital Stationary Night Blindness Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427 Tags
Green Green List (high evidence)	CACNA1F	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Phenotypes Achromatopsia, Cone, and Cone-rod Dystrophy Congenital Stationary Night Blindness Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071Cone-rod dystropy, X-linked, 3, 300476Aland Island eye disease, 300600 Tags
Green Green List (high evidence)	CACNA2D4	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Retinal cone dystrophy 4, 610478 Congenital Stationary Night Blindness Achromatopsia, Cone, and Cone-rod Dystrophy Tags
Green Green List (high evidence)	CAPN5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Genetic Retinal Degeneration Conditions Tags
Green Green List (high evidence)	CC2D2A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes COACH syndrome, 216360 Joubert syndrome 9, 612285 Meckel syndrome 6, 612284 Eye Disorders Tags
Green Green List (high evidence)	CDH23	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Tags
Green Green List (high evidence)	CDH3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes i Hypotrichosis, congenital, with juvenile macular dystrophy, 601553Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 i Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 Macular Dystrophy/Degeneration/Stargardt Disease Eye Disorders Tags
Green Green List (high evidence)	CDHR1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Achromatopsia, Cone, and Cone-rod Dystrophy Eye Disorders Cone-Rod Dystrophy, Recessive Cone-rod dystrophy 15, 613660 Retinitis pigmentosa 65, 613660 Tags
Green Green List (high evidence)	CEP164	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Genetic Retinal Degeneration Conditions Tags
Green Green List (high evidence)	CEP250	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS RetNet Phenotypes Cone-rod dystrophy and hearing loss 2, OMIM:618358, MONDO:0020780 Tags
Green Green List (high evidence)	CEP290	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Achromatopsia, Cone, and Cone-rod Dystrophy Bardet-Biedl syndrome 14 (AR) Joubert syndrome 5 (AR) Leber congenital amaurosis 10 (AR) Meckel syndrome type 4 (AR) Senior-Loken syndrome 6 (AR) Leber congenital amaurosis type 10 Joubert syndrome 5, 610188 Senior-Loken syndrome 6, 610189 Leber congenital amaurosis 10, 611755 Meckel syndrome 4, 611134 Bardet-Biedl syndrome 14, 209900 Leber Congenital Amaurosis Eye Disorders Tags
Green Green List (high evidence)	CEP78	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Cone-Rod Dystrophy and Hearing Loss CRDHL OMIM: 617236 Tags
Green Green List (high evidence)	CERKL	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Retinitis pigmentosa 26, RP26 (AR) Eye Disorders Retinitis pigmentosa Retinitis Pigmentosa, Recessive Retinitis pigmentosa 26, 608380 Tags
Green Green List (high evidence)	CFH	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes {Macular degeneration, age-related, 4} 610698 Basal laminar drusen, 126700 Tags
Green Green List (high evidence)	CHM	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Phenotypes Choroideremia Eye Disorders Retinitis pigmentosa Choroideremia (degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye) Tags gene-therapy-trial
Green Green List (high evidence)	CLN3	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Retinitis pigmentosa Tags
Green Green List (high evidence)	CLN5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Ceroid lipofuscinosis, neuronal, 5 OMIM:256731 neuronal ceroid lipofuscinosis 5 MONDO:0009745 Tags
Green Green List (high evidence)	CLN6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Ceroid lipofuscinosis, neuronal, 6 601780 Tags
Green Green List (high evidence)	CLN8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Ceroid lipofuscinosis, neuronal, 8, 600143 Tags
Green Green List (high evidence)	CLRN1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders ?Usher syndrome, type 3A, 276902 Retinitis pigmentosa 61, 614180 Tags
Green Green List (high evidence)	CNGA1	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Retinitis pigmentosa 49, RP49 (AR) Eye Disorders Retinitis pigmentosa Retinitis Pigmentosa, Recessive Retinitis pigmentosa 49, 613756 Tags
Green Green List (high evidence)	CNGA3	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Achromatopsia Achromatopsia-2, 216900 Eye Disorders Achromatopsia, Cone, and Cone-rod Dystrophy Tags
Green Green List (high evidence)	CNGB1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Retinitis pigmentosa 45, RP45 (AR) Eye Disorders Retinitis pigmentosa Retinitis Pigmentosa, Recessive Retinitis pigmentosa 45, 613767 Tags
Green Green List (high evidence)	CNGB3	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Achromatopsia 3, OMIM:262300 Macular degeneration, juvenile Tags gene-therapy-trial
Green Green List (high evidence)	CNNM4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Achromatopsia, Cone, and Cone-rod Dystrophy Eye Disorders Jalili syndrome Tags
Green Green List (high evidence)	COL11A1	4 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Stickler syndrome, type II, OMIM:604841 Marshall syndrome, OMIM:154780 Tags
Green Green List (high evidence)	COL18A1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Green NHS GMS Phenotypes Knobloch syndrome, type 1, OMIM:267750 Tags
Green Green List (high evidence)	COL2A1	6 reviews 4 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Epiphyseal dysplasia, multiple, with myopia and deafness, OMIM:132450 Vitreoretinopathy with phalangeal epiphyseal dysplasia, OMIM:619248 Kniest dysplasia, OMIM:156550 SED congenita, OMIM:183900 Stickler syndrome, type I, OMIM:108300 Stickler syndrome, type I, nonsyndromic ocular, OMIM:609508 Tags
Green Green List (high evidence)	COL4A1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Tags
Green Green List (high evidence)	COL9A1	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Stickler syndrome, type IV, OMIM:614134 Tags
Green Green List (high evidence)	COL9A2	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Stickler syndrome, type V, OMIM:614284 Tags
Green Green List (high evidence)	COL9A3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Stickler syndrome, type VI, OMIM:620022 Tags
Green Green List (high evidence)	COQ2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Coenzyme Q10 deficiency, primary, 1, OMIM:607426 coenzyme Q10 deficiency, primary, 1, MONDO:0011829 Tags
Green Green List (high evidence)	CRB1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Leber Congenital Amaurosis, OMIM:613835 Retinitis pigmentosa-12, OMIM:600105 Tags
Green Green List (high evidence)	CRX	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Cone-rod retinal dystrophy -2 Leber congenital amaurosis 7 Leber Congenital Amaurosis Cone-rod retinal dystrophy-2, 120970 Leber congenital amaurosis 7, 613829 CRX-RELATED LEBER CONGENITAL AMAUROSIS LEBER CONGENITAL AMAUROSIS 7 Eye Disorders Retinitis Pigmentosa, Dominant Retinitis pigmentosa Tags
Green Green List (high evidence)	CSPP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Genetic Retinal Degeneration Conditions Joubert syndrome 21,615636 Tags
Green Green List (high evidence)	CTC1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cerebroretinal microangiopathy with calcifications and cysts, OMIM:612199 Tags
Green Green List (high evidence)	CTNNA1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS RetNet Phenotypes Macular dystrophy, patterned, 2, OMIM:608970 exudative vitreoretinopathy, MONDO:0019516 Tags
Green Green List (high evidence)	CTNNB1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Exudative vitreoretinopathy 7, OMIM:617572 Tags
Green Green List (high evidence)	CTSD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Ceroid lipofuscinosis, neuronal, 10, 610127 Tags
Green Green List (high evidence)	CWC27	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Retinitis pigmentosa with or without skeletal anomalies, 250410 Tags
Green Green List (high evidence)	CYP4V2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Bietti crystalline corneoretinal dystrophy, 210370 Eye Disorders Retinitis pigmentosa Tags
Green Green List (high evidence)	DHDDS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Retinitis pigmentosa 59, OMIM:613861 Tags
Green Green List (high evidence)	DRAM2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS RetNet Phenotypes Cone-rod dystrophy 21, 616502 macular dystrophy cone-dystrophy Tags
Green Green List (high evidence)	EFEMP1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Eligibility statement prior genetic testing Expert Review Green NHS GMS Phenotypes Doyne honeycomb degeneration of retina, OMIM:126600 Tags
Green Green List (high evidence)	ELOVL4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Macular dystrophy, autosomal dominant, chromosome 6-linked Stargardt disease 3 Stargardt disease 3, 600110Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110Ichthyosis, spastic quadriplegia, and mental retardation, 614457 Stargardt Disease, Dominant Stargardt disease 3, 600110 Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110 Ichthyosis, spastic quadriplegia, and mental retardation, 614457 Macular Dystrophy/Degeneration/Stargardt Disease Eye Disorders Tags
Green Green List (high evidence)	ERCC6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cockayne syndrome, type B, OMIM:133540 Tags
Green Green List (high evidence)	ERCC8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Cockayne syndrome, type A 216400 Tags
Green Green List (high evidence)	EYS	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Retinitis pigmentosa 25, OMIM:602772 Tags
Green Green List (high evidence)	FAM161A	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Retinitis pigmentosa 28, 606068 Retinitis pigmentosa Retinitis Pigmentosa, Recessive Tags
Green Green List (high evidence)	FAM57B	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Cone-rod dystrophy, MONDO:0015993 Maculopathy Tags new-gene-name
Green Green List (high evidence)	FLVCR1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Posterior Column Ataxia with Retinitis Pigmentosa Ataxia, posterior column, with retinitis pigmentosa, 609033 Retinitis pigmentosa Tags
Green Green List (high evidence)	FZD4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Tags
Green Green List (high evidence)	GNAT1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Congenital Stationary Night Blindness Night blindness, congenital stationary, autosomal dominant 3, 610444 Tags
Green Green List (high evidence)	GNAT2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Achromatopsia Achromatopsia-4 Eye Disorders Achromatopsia, Cone, and Cone-rod Dystrophy Tags
Green Green List (high evidence)	GNB3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS RetNet Phenotypes Night blindness, congenital stationary, type 1H, OMIM:617024, MONDO:0014872 Tags
Green Green List (high evidence)	GNPTG	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Genetic Retinal Degeneration Conditions Mucolipidosis III gamma Tags
Green Green List (high evidence)	GPR143	5 reviews 4 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Eligibility statement prior genetic testing Expert Review Green NHS GMS Phenotypes Developmental macular and foveal dystrophy (foveal hypoplasia in the context of albinism) Eye Disorders Ocular albinism, type I Nystagmus Nystagmus 6, congenital, X-linked, 300814 Ocular albinism, type I, Nettleship-Falls type, 300500 Tags
Green Green List (high evidence)	GPR179	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Congenital Stationary Night Blindness Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 Tags
Green Green List (high evidence)	GRK1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Oguchi disease-2, 613411 Tags
Green Green List (high evidence)	GRM6	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Congenital Stationary Night Blindness Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 Tags
Green Green List (high evidence)	GRN	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Ceroid lipofuscinosis, neuronal, 11, OMIM:614706 neuronal ceroid lipofuscinosis 1, MONDO:0013866 Tags
Green Green List (high evidence)	GUCA1A	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Cone dystrophy-3, 602093 Eye Disorders Achromatopsia, Cone, and Cone-rod Dystrophy Tags
Green Green List (high evidence)	GUCA1B	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Macular Dystrophy/Degeneration/Stargardt Disease Eye Disorders Retinitis Pigmentosa, Dominant Retinitis pigmentosa Retinitis pigmentosa 48, 613827 Tags
Green Green List (high evidence)	GUCY2D	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Achromatopsia, Cone, and Cone-rod Dystrophy Cone-rod dystrophy 6 (AD) Leber congenital amaurosis 1 (AR) Leber congenital amaurosis 1, 204000 Eye Disorders Retinitis pigmentosa Tags
Green Green List (high evidence)	HCCS	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Linear skin defects with multiple congenital anomalies 1, 309801 Tags
Green Green List (high evidence)	HGSNAT	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Retinitis pigmentosa 73 Tags
Green Green List (high evidence)	HK1	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Other Phenotypes Retinitis pigmentosa 79, OMIM:617460 Neurodevelopmental disorder with visual defects and brain anomalies, OMIM:618547 Tags founder-effect
Green Green List (high evidence)	HMX1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Tags
Green Green List (high evidence)	IDH3A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Retinitis pigmentosa 90, OMIM:619007 retinitis pigmentosa 90, MONDO:0033563 Tags
Green Green List (high evidence)	IDH3B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Retinitis pigmentosa 46, 612572 Retinitis pigmentosa Retinitis Pigmentosa, Recessive Tags
Green Green List (high evidence)	IFT140	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Genetic Retinal Degeneration Conditions Tags
Green Green List (high evidence)	IFT172	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS RetNet Phenotypes Retinitis pigmentosa 71, OMIM:616394, MONDO:0014618 Tags
Green Green List (high evidence)	IFT27	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS RetNet Phenotypes ?Bardet-Biedl syndrome 19, OMIM:615996 Tags
Green Green List (high evidence)	IFT74	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes ?Bardet-Biedl syndrome 20, OMIM:617119 Tags
Green Green List (high evidence)	IKBKG	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Phenotypes Incontinentia pigmenti, 308300 Tags
Green Green List (high evidence)	IMPDH1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Leber congenital amaurosis 11 Retinitis pigmentosa 10 Retinitis pigmentosa 10, 180105 Leber Congenital Amaurosis Leber congenital amaurosis 11 Eye Disorders Retinitis Pigmentosa, Dominant Retinitis pigmentosa Tags
Green Green List (high evidence)	IMPG1	5 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Macular dystrophy, vitelliform, 4, OMIM:616151 Retinitis pigmentosa, MONDO:0019200 Tags
Green Green List (high evidence)	IMPG2	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Maculopathy, IMPG2 - related Retinitis pigmentosa 56 Eye Disorders Retinitis pigmentosa Retinitis pigmentosa 56, 613581 Retinitis Pigmentosa, Recessive Tags
Green Green List (high evidence)	INPP5E	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Genetic Retinal Degeneration Conditions Tags
Green Green List (high evidence)	IQCB1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Senior-Loken syndrome 5 (nephronophthisis and Leber congenital amaurosis) Leber congenital amaurosis Eye Disorders Tags
Green Green List (high evidence)	KCNJ13	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Leber congenital amaurosis 16, 614186 Leber Congenital Amaurosis Eye Disorders Snowflake vitreoretinal degeneration, 193230 Tags
Green Green List (high evidence)	KCNV2	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Retinal Cone Dystrophy Eye Disorders Achromatopsia, Cone, and Cone-rod Dystrophy Tags
Green Green List (high evidence)	KIAA1549	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes No OMIM phenotype Tags
Green Green List (high evidence)	KIF11	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Genetic Retinal Degeneration Conditions Tags
Green Green List (high evidence)	KIZ	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Retinitis pigmentosa 69, 615780 HP:0000556 HP:0000510 Tags
Green Green List (high evidence)	KLHL7	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Retinitis pigmentosa 42 Eye Disorders Retinitis Pigmentosa, Dominant Retinitis pigmentosa Retinitis pigmentosa 42, 612943 Tags
Green Green List (high evidence)	LAMA1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS RetNet Phenotypes Poretti-Boltshauser syndrome, OMIM:615960 Tags
Green Green List (high evidence)	LAMP2	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature NHS GMS Phenotypes Pigmentary retinopathy Danon disease, OMIM:300257 Tags
Green Green List (high evidence)	LCA5	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Leber congenital amaurosis 5 Leber Congenital Amaurosis Leber congenital amaurosis 5, 604537 Eye Disorders Leber congenital amaurosis 5 Tags
Green Green List (high evidence)	LRAT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Leber congenital amaurosis 14 Retinal dystrophy, early - onset severe Retinitis pigmentosa, juvenile Leber Congenital Amaurosis Retinal dystrophy, early-onset severe, 613341 Retinitis pigmentosa Retinitis Pigmentosa, Recessive Eye Disorders Tags
Green Green List (high evidence)	LRIT3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Congenital Stationary Night Blindness Congenital Stationary Night Blindness, Recessive Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 Tags
Green Green List (high evidence)	LRP2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Green NHS GMS Phenotypes Donnai-Barrow syndrome 222448 Tags
Green Green List (high evidence)	LRP5	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Exudative vitreoretinopathy 4 Tags
Green Green List (high evidence)	LZTFL1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Bardet-Biedl syndrome 17 Tags
Green Green List (high evidence)	MAK	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Retinitis pigmentosa 62, 614181 Retinitis pigmentosa Retinitis Pigmentosa, Recessive Tags
Green Green List (high evidence)	MED12	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes Hardikar syndrome, OMIM:612726 cholestasis-pigmentary retinopathy-cleft palate syndrome, MONDO:0012997 Tags Skewed X-inactivation
Green Green List (high evidence)	MERTK	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Retinitis pigmentosa 38 childhood onset rod-cone dystrophy with early macular atrophy Leber congenital amaurosis Retinitis pigmentosa 38 Eye Disorders Retinitis pigmentosa Retinitis Pigmentosa, Recessive Retinitis pigmentosa 38, 613862 Tags
Green Green List (high evidence)	MFRP	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Tags
Green Green List (high evidence)	MFSD8	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Ceroid lipofuscinosis, neuronal, 7, 610951 Macular dystrophy with central cone involvement, 616170 Eye Disorders Tags
Green Green List (high evidence)	MKKS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Tags
Green Green List (high evidence)	MKS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Tags
Green Green List (high evidence)	MMACHC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria, cblC type, OMIM:277400, MONDO:0010184 Tags
Green Green List (high evidence)	MSTO1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Myopathy, mitochondrial, and ataxia, OMIM:617675 Tags
Green Green List (high evidence)	MTTP	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Abetalipoproteinemia, OMIM:200100, MONDO:0008692 Tags
Green Green List (high evidence)	MYO7A	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Usher syndrome, type 1B, OMIM:276900 Tags
Green Green List (high evidence)	NDP	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Tags
Green Green List (high evidence)	NEUROD1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS RetNet Phenotypes Retinitis pigmentosa Retinopathy Permanent neonatal diabetes Tags
Green Green List (high evidence)	NMNAT1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Leber congenital amaurosis 9, 608553 Tags
Green Green List (high evidence)	NPHP1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Tags
Green Green List (high evidence)	NPHP3	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Tags
Green Green List (high evidence)	NPHP4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Tags
Green Green List (high evidence)	NR2E3	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Enhanced S - cone syndrome (AR) Retinitis pigmentosa 37 (AD and AR) Eye Disorders Retinitis pigmentosa Retinitis Pigmentosa, Recessive Enhanced S-cone syndrome, 268100 Tags
Green Green List (high evidence)	NRL	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Retinal degeneration, autosomal recessive, clumped pigment type (AR) Retinitis pigmentosa 27, OMIM:613750 Tags
Green Green List (high evidence)	NYX	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes Congenital Stationary Night Blindness Congenital Stationary Night Blindness, X-linked Night blindness, congenital stationary (complete), 1A, X-linked, 310500 Tags
Green Green List (high evidence)	OAT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Tags
Green Green List (high evidence)	OFD1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes Joubert syndrome 10 Eye Disorders ?Retinitis pigmentosa 23, 300424Joubert syndrome 10, 300804Orofaciodigital syndrome I, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209 Retinitis pigmentosa Tags
Green Green List (high evidence)	OPN1LW	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes Blue cone monochromacy, 303700 Tags
Green Green List (high evidence)	OPN1MW	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes Blue cone monochromacy, 303700 Tags
Green Green List (high evidence)	OTX2	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Microphthalmia, syndromic 5, 610125 early onset retinal dystrophy autosomal-dominant pattern dystrophy of the retinal pigment epithelium Retinal Dystrophy Eye Disorders Tags
Green Green List (high evidence)	P3H2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Myopia, high, with cataract and vitreoretinal degeneration, OMIM:614292, MONDO:0013670 Tags deletions
Green Green List (high evidence)	PANK2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes HARP syndrome Neurodegeneration with brain iron accumulation 1 Tags
Green Green List (high evidence)	PAX2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS RetNet Phenotypes Papillorenal syndrome, OMIM:120330 renal coloboma syndrome, MONDO:0007352 Tags
Green Green List (high evidence)	PCDH15	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Usher syndrome Type 1F non-syndromic deafness Usher syndrome, type 1D/F digenic Eye Disorders Tags
Green Green List (high evidence)	PCYT1A	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 Tags
Green Green List (high evidence)	PDE6A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Retinitis pigmentosa 43 Eye Disorders Retinitis pigmentosa Retinitis Pigmentosa, Recessive Retinitis pigmentosa 43, 613810 Tags
Green Green List (high evidence)	PDE6B	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Night blindness, congenital stationary, autosomal dominant 2 Retinitis pigmentosa 40 Congenital Stationary Night Blindness, Dominant Congenital Stationary Night Blindness Night blindness, congenital stationary, autosomal dominant 2, 163500 Retinitis pigmentosa Retinitis Pigmentosa, Recessive Tags
Green Green List (high evidence)	PDE6C	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Achromatopsia Cone dystrophy 4 Eye Disorders Cone-Rod Dystrophy, Recessive Achromatopsia, Cone, and Cone-rod Dystrophy Tags
Green Green List (high evidence)	PDE6G	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Retinitis pigmentosa Retinitis Pigmentosa, Recessive Retinitis pigmentosa 57, 613582 Tags
Green Green List (high evidence)	PDSS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Coenzyme Q10 deficiency, primary, 2, OMIM:614651 deafness-encephaloneuropathy-obesity-valvulopathy syndromeMONDO:0013837 Tags
Green Green List (high evidence)	PEX1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Genetic Retinal Degeneration Conditions Tags
Green Green List (high evidence)	PEX2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Genetic Retinal Degeneration Conditions Tags
Green Green List (high evidence)	PEX6	4 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Heimler syndrome 2, OMIM:616617 MONDO:0014709 Peroxisome biogenesis disorder 4B, OMIM:614863 Tags
Green Green List (high evidence)	PEX7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Refsum disease Tags
Green Green List (high evidence)	PHYH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Refsum disease Tags
Green Green List (high evidence)	PLA2G5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Tags
Green Green List (high evidence)	PLK4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS RetNet Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171 microcephaly and chorioretinopathy 2, MONDO:0014516 Tags
Green Green List (high evidence)	PNPLA6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS RetNet Phenotypes Boucher-Neuhauser syndrome, OMIM:215470 Oliver-McFarlane syndrome, OMIM:275400 ?Laurence-Moon syndrome, OMIM:245800 Tags
Green Green List (high evidence)	POC1B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cone-rod dystrophy 20, 615973 Tags
Green Green List (high evidence)	POMGNT1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS RetNet Phenotypes Retinitis pigmentosa 76, OMIM:617123, MONDO:0014929 Tags
Green Green List (high evidence)	POMT1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1, MONDO:0013159 Tags
Green Green List (high evidence)	PPT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Ceroid lipofuscinosis, neuronal, 1, 256730 Tags
Green Green List (high evidence)	PRCD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Retinitis pigmentosa Retinitis Pigmentosa, Recessive Retinitis pigmentosa 36, 610599 Tags
Green Green List (high evidence)	PRDM13	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS RetNet Phenotypes North Carolina macular dystrophy, MONDO:0007630 Tags
Green Green List (high evidence)	PROM1	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Achromatopsia, Cone, and Cone-rod Dystrophy Cone - rod dystrophy 12 Macular dystrophy, retinal, 2 Retinitis pigmentosa 41 Stargardt disease 4 Retinal Macular Dystrophy Retinitis pigmentosa 41, 612095 Cone-rod dystrophy 12, 612657 Stargardt disease 4, 603786 Macular dystrophy, retinal, 2, 608051 Stargardt Disease, Dominant Macular Dystrophy/Degeneration/Stargardt Disease Eye Disorders Retinitis pigmentosa Retinitis Pigmentosa, Recessive Cone-Rod Dystrophy, Dominant Retinitis pigmentosa 41, 612095 Tags
Green Green List (high evidence)	PRPF3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Retinitis pigmentosa 18 Eye Disorders Retinitis Pigmentosa, Dominant Retinitis pigmentosa Retinitis pigmentosa 18 Tags
Green Green List (high evidence)	PRPF31	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Retinitis pigmentosa 11 Eye Disorders Retinitis Pigmentosa, Dominant Retinitis pigmentosa Retinitis pigmentosa 11, 600138 Tags
Green Green List (high evidence)	PRPF4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Retinitis pigmentosa 70 Tags
Green Green List (high evidence)	PRPF6	6 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Retinitis pigmentosa 60, OMIM:613983 retinitis pigmentosa 60, MONDO:0013516 Tags
Green Green List (high evidence)	PRPF8	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Retinitis pigmentosa 13 Eye Disorders Retinitis Pigmentosa, Dominant Retinitis pigmentosa Retinitis pigmentosa 13, 600059 Tags
Green Green List (high evidence)	PRPH2	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Green NHS GMS Tags
Green Green List (high evidence)	PRPS1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature NHS GMS Phenotypes retinal dystrophy Tags
Green Green List (high evidence)	RAB28	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cone-rod dystrophy 18, 615374 Tags
Green Green List (high evidence)	RAX2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Achromatopsia, Cone, and Cone-rod Dystrophy Macular Degeneration Eye Disorders Cone-Rod Dystrophy, Dominant Cone-rod dystrophy 11 Tags
Green Green List (high evidence)	RBP3	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Retinitis Pigmentosa, Recessive Retinitis pigmentosa ?Retinitis pigmentosa 66, 615233 Tags
Green Green List (high evidence)	RBP4	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Achromatopsia, Cone, and Cone-rod Dystrophy Macular Dystrophy/Degeneration/Stargardt Disease Congenital Stationary Night Blindness Retinitis pigmentosa Tags
Green Green List (high evidence)	RCBTB1	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Familial exudative vitreoretinopathy Coats disease Retinal dystrophy with or without extraocular anomalies, OMIM:617175 Tags
Green Green List (high evidence)	RD3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Leber Congenital Amaurosis Leber congenital amaurosis 12, 610612 Eye Disorders Tags
Green Green List (high evidence)	RDH12	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Leber congenital amaurosis 13 Macular Dystrophy/Degeneration/Stargardt Disease Leber congenital amaurosis 13, 612712 Eye Disorders Retinitis Pigmentosa, Recessive Retinitis pigmentosa Tags
Green Green List (high evidence)	RDH5	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Achromatopsia, Cone, and Cone-rod Dystrophy Congenital Stationary Night Blindness Fundus albipunctatus, 136880 Fundus albipunctatus Tags
Green Green List (high evidence)	REEP6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS RetNet Phenotypes retinitis pigmentosa Retinitis pigmentosa 77, 617304 Tags
Green Green List (high evidence)	RGR	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Retinitis pigmentosa 44, OMIM:613769 Retinitis pigmentosa 44, MONDO:0013414 Tags
Green Green List (high evidence)	RGS9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Achromatopsia, Cone, and Cone-rod Dystrophy Eye Disorders Tags
Green Green List (high evidence)	RHO	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Night blindness, congenital stationary autosomal dominant 1 Retinitis pigmentosa Retinitis punctata albescens Congenital Stationary Night Blindness Retinitis pigmentosa 4, autosomal dominant or recessive, 613731 Retinitis Pigmentosa, Dominant/Recessive Retinitis pigmentosa Tags
Green Green List (high evidence)	RIMS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cone-rod synaptic disorder syndrome, congenital nonprogressive, OMIM:618970 Tags
Green Green List (high evidence)	RLBP1	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Bothnia retinal dystrophy Fundus albipunctatus Newfoundland rod - cone dystrophy Retinitis punctata albescens Fundus albipunctatus, 136880 Fundus Albipunctatus Eye Disorders Retinitis Pigmentosa, Recessive Retinitis pigmentosa Tags
Green Green List (high evidence)	RNU4ATAC	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature NHS GMS Phenotypes Lowry-Wood syndrome, OMIM:226960 Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710 Roifman syndrome, OMIM:616651 Tags
Green Green List (high evidence)	ROM1	6 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Retinitis pigmentosa 7, digenic, OMIM:608133 Tags
Green Green List (high evidence)	RP1	5 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Retinitis pigmentosa 1 Eye Disorders Retinitis pigmentosa 1, 180100{Hypertriglyceridemia, susceptibility to}, 145750 Retinitis Pigmentosa, Dominant Retinitis pigmentosa rod-cone dystrophy Tags
Green Green List (high evidence)	RP1L1	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Occult macular dystrophy, OMIM:613587 (AD) Retinitis pigmentosa 88, OMIM:618826 (AR) Tags
Green Green List (high evidence)	RP2	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes Retinitis pigmentosa 2 RP2-related X-linked Retinitis Pigmentosa Eye Disorders Retinitis pigmentosa Retinitis pigmentosa 2, 312600 Retinitis Pigmentosa, X-linked Tags
Green Green List (high evidence)	RP9	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Retinitis Pigmentosa, Dominant Retinitis pigmentosa Retinitis pigmentosa 9, 180104 Tags
Green Green List (high evidence)	RPE65	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber Congenital Amaurosis Leber congenital amaurosis 2, 204100 Eye Disorders Retinitis Pigmentosa, Recessive Retinitis pigmentosa Tags gene-therapy-trial
Green Green List (high evidence)	RPGR	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Phenotypes Achromatopsia, Cone, and Cone-rod Dystrophy Cone - rod dystrophy - 1 Macular degeneration, X - linked atrophic Retinitis pigmentosa 3 Retinitis pigmentosa, X -linked, and sinorespiratory infections, with or without deafness Retinitis pigmentosa 3, 300029Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455Macular degeneration, X-linked atrophic, 300834Cone-rod dystrophy, X-linked, 1, 304020 Retinitis pigmentosa 3, 300029 Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 Macular degeneration, X-linked atrophic, 300834 Cone-rod dystrophy, X-linked, 1, 304020 Macular Dystrophy/Degeneration/Stargardt Disease RPGR-related X-linked Retinitis Pigmentosa Eye Disorders Retinitis pigmentosa Tags gene-therapy-trial
Green Green List (high evidence)	RPGRIP1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Achromatopsia, Cone, and Cone-rod Dystrophy Cone - rod dystrophy 13 Leber congenital amaurosis 6 Macular Dystrophy/Degeneration/Stargardt Disease Leber Congenital Amaurosis Leber congenital amaurosis 6, 613826 Eye Disorders Retinitis pigmentosa Cone-Rod Dystrophy, Recessive Leber congenital amaurosis 6, 613826Cone-rod dystrophy 13, 608194 Tags
Green Green List (high evidence)	RPGRIP1L	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes COACH syndrome Joubert syndrome 7 Meckel syndrome 5 Eye Disorders Tags
Green Green List (high evidence)	RS1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Eligibility statement prior genetic testing Expert Review Green NHS GMS Phenotypes Developmental macular and foveal dystrophy (males with foveal schisis) Eye Disorders Tags
Green Green List (high evidence)	SAG	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Oguchi disease - 1 Retinitis pigmentosa 47 Oguchi Disease Congenital Stationary Night Blindness Oguchi disease-1, 258100 Retinitis Pigmentosa, Recessive Retinitis pigmentosa Tags
Green Green List (high evidence)	SCAPER	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes More than one phenotype including syndromic cases for syndromic forms of Inherited retinal disease or albinism Intellectual developmental disorder and retinitis pigmentosa, 618195 Tags
Green Green List (high evidence)	SDCCAG8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Tags
Green Green List (high evidence)	SGSH	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Retinal dystrophy, HP:0000556 retinitis pigmentosa, MONDO:0019200 Tags
Green Green List (high evidence)	SLC24A1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Congenital Stationary Night Blindness Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 Tags
Green Green List (high evidence)	SLC38A8	6 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216 chiasmal misrouting Tags
Green Green List (high evidence)	SLC6A6	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Early retinal degeneration cardiomyopathy Tags
Green Green List (high evidence)	SNRNP200	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Retinitis Pigmentosa, Dominant Retinitis pigmentosa Retinitis pigmentosa 33, 610359 Tags
Green Green List (high evidence)	SPATA7	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Leber congenital amaurosis 3 Retinitis pigmentosa, juvenile, autosomal recessive Leber Congenital Amaurosis Leber congenital amaurosis 3, 604232 Retinitis pigmentosa, juvenile, autosomal recessive Eye Disorders Leber congenital amaurosis 3, 604232Retinitis pigmentosa, juvenile, autosomal recessive, 604232 Retinitis Pigmentosa, Recessive Retinitis pigmentosa Tags
Green Green List (high evidence)	SRD5A3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Congenital disorder of glycosylation, type Iq, 612379 Kahrizi syndrome, 612713 Tags
Green Green List (high evidence)	SSBP1	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510 Tags
Green Green List (high evidence)	STN1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Cerebroretinal microangiopathy with calcifications and cysts 2, OMIM:617341 Tags
Green Green List (high evidence)	TIMM8A	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Mohr-Tranebjaerg syndrome, 304700 Tags
Green Green List (high evidence)	TIMP3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Sorsby fundus dystrophy Eye Disorders Macular Dystrophy/Degeneration/Stargardt Disease Tags
Green Green List (high evidence)	TINF2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Revesz syndrome, 268130 Tags
Green Green List (high evidence)	TMEM216	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Joubert syndrome 2, OMIM:608091, MONDO:0011963 Meckel syndrome 2, OMIM:603194, MONDO:0011296 Tags
Green Green List (high evidence)	TMEM218	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 39, OMIM:619562 Tags gene-checked
Green Green List (high evidence)	TMEM231	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Joubert syndrome 20, OMIM:614970 Tags
Green Green List (high evidence)	TMEM237	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Tags
Green Green List (high evidence)	TOPORS	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Retinitis pigmentosa 31 Eye Disorders Retinitis pigmentosa 31, 609923 Retinitis Pigmentosa, Dominant Retinitis pigmentosa Tags
Green Green List (high evidence)	TPP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Ceroid lipofuscinosis, neuronal, 2, 204500 Tags
Green Green List (high evidence)	TRAF3IP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Senior-Loken syndrome 9, OMIM:616629 Tags
Green Green List (high evidence)	TREX1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS RetNet Phenotypes Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, OMIM:192315 Tags
Green Green List (high evidence)	TRNT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS RetNet Phenotypes Retinitis pigmentosa and erythrocytic microcytosis, OMIM:616959 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM:616084 Tags
Green Green List (high evidence)	TRPM1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Night blindness, congenital stationary (complete), 1C, autosomal recessive Congenital Stationary Night Blindness Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 Tags
Green Green List (high evidence)	TSPAN12	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Exudative vitreoretinopathy 5, OMIM:613310 Tags
Green Green List (high evidence)	TTC8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Bardet-Biedl syndrome 8, 209900 Retinitis pigmentosa 51, 613464 Retinitis Pigmentosa, Recessive Retinitis pigmentosa ?Retinitis pigmentosa 51 Tags
Green Green List (high evidence)	TTLL5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cone-rod dystrophy 19,615860 Tags
Green Green List (high evidence)	TUB	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Genetic Retinal Degeneration Conditions Tags
Green Green List (high evidence)	TUBB4B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Leber congenital amaurosis with early-onset deafness, OMIM:617879 Tags
Green Green List (high evidence)	TUBGCP4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS RetNet Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 3, OMIM:616335 Tags
Green Green List (high evidence)	TUBGCP6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS RetNet Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 1, OMIM:251270 microcephaly and chorioretinopathy 1, MONDO:0009624 Tags
Green Green List (high evidence)	TULP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Leber congenital amaurosis 15 Retinitis pigmentosa 14 Leber Congenital Amaurosis Retinitis pigmentosa 14, 600132 Eye Disorders Retinitis pigmentosa 14, 600132Leber congenital amaurosis 15, 613843 Retinitis Pigmentosa, Recessive Retinitis pigmentosa Tags
Green Green List (high evidence)	UNC119	5 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Achromatopsia, Cone, and Cone-rod Dystrophy Eye Disorders Cone-Rod Dystrophy, Dominant CD4 lymphopenia, idiopathic (Gorska (2012) Blood 119, 1399) Tags
Green Green List (high evidence)	USH1C	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Tags
Green Green List (high evidence)	USH1G	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Tags
Green Green List (high evidence)	USH2A	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Retinitis pigmentosa Usher syndrome, type 2A Eye Disorders Usher syndrome, type 2A, 276901Retinitis pigmentosa 39, 613809 Retinitis Pigmentosa, Recessive Retinitis pigmentosa Tags
Green Green List (high evidence)	USP45	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lebers congenital amaurosis retinal dystrophy ?Leber congenital amaurosis 19, OMIMM:618513 Tags gene-checked
Green Green List (high evidence)	VCAN	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Wagner Syndrome Eye Disorders Tags
Green Green List (high evidence)	VPS13B	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Genetic Retinal Degeneration Conditions Tags
Green Green List (high evidence)	WDPCP	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Bardet-Biedl syndrome 15, OMIM:615992 OFD Congenital heart defects, hamartomas of tongue, and polysyndactyly, OMIM:217085 Tags
Green Green List (high evidence)	WDR19	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Genetic Retinal Degeneration Conditions Tags
Green Green List (high evidence)	WHRN	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Tags
Green Green List (high evidence)	ZFYVE26	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spastic paraplegia 15, autosomal recessive OMIM:270700 Tags
Green Green List (high evidence)	ZNF408	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Familial exudative vitreoretinopathy (FEVR) Tags
Green Green List (high evidence)	ZNF423	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Tags
Amber Amber List (moderate evidence)	ADIPOR1	1 review	Not set	Sources Expert Review Amber NHS GMS RetNet Tags
Amber Amber List (moderate evidence)	AHR	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS RetNet Phenotypes ?Retinitis pigmentosa 85, OMIM:618345 Retinal dystrophy Tags watchlist
Amber Amber List (moderate evidence)	ASRGL1	1 review	Not set	Sources Expert Review Amber NHS GMS RetNet Tags
Amber Amber List (moderate evidence)	C12orf65	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS RetNet Phenotypes Combined oxidative phosphorylation deficiency 7, OMIM:613559 Spastic paraplegia 55, autosomal recessive, OMIM:615035 Tags new-gene-name
Amber Amber List (moderate evidence)	CCT2	1 review	Not set	Sources Expert Review Amber NHS GMS RetNet Tags
Amber Amber List (moderate evidence)	CEP19	1 review	Not set	Sources Expert Review Amber NHS GMS RetNet Tags
Amber Amber List (moderate evidence)	CFAP20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Retinitis pigmentosa (MONDO:0019200) Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	CLCC1	1 review	Not set	Sources Expert Review Amber NHS GMS RetNet Tags
Amber Amber List (moderate evidence)	CLUAP1	1 review	Not set	Sources Expert Review Amber NHS GMS RetNet Tags
Amber Amber List (moderate evidence)	COQ5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Coenzyme Q10 deficiency, primary, 9, OMIM:619028 coenzyme q10 deficiency, primary, 9, MONDO:0033615 Tags
Amber Amber List (moderate evidence)	CTNND1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes exudative vitreoretinopathy, MONDO:0019516 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	CYP2R1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS Phenotypes Vogt-Koyanagi-Harada disease Rickets due to defect in vitamin D 25-hydroxylation 600081 Tags
Amber Amber List (moderate evidence)	DHX38	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Retinitis pigmentosa 84, 618220 Tags
Amber Amber List (moderate evidence)	DMD	1 review	Not set	Sources Expert Review Amber NHS GMS RetNet Tags Skewed X-inactivation
Amber Amber List (moderate evidence)	DYNC2H1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes retinitis pigmentosa, MONDO:0019200 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	ELOVL1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS RetNet Phenotypes Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527 Tags
Amber Amber List (moderate evidence)	ESPN	1 review	Not set	Sources Expert Review Amber NHS GMS RetNet Tags
Amber Amber List (moderate evidence)	EXOSC2	1 review	Not set	Sources Expert Review Amber NHS GMS RetNet Tags
Amber Amber List (moderate evidence)	FRMD7	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Nystagmus 1, congenital, X-linked, OMIM:310700 Nystagmus, infantile periodic alternating, X-linked, OMIM:310700 foveal hypoplasia, MONDO:0044203 Tags
Amber Amber List (moderate evidence)	GDF6	3 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Klippel-Feil syndrome 1, autosomal dominant, 118100 Leber congenital amaurosis 17, 615360 Microphthalmia with coloboma 6, digenic, 613703 Microphthalmia, isolated 4, 613094 Tags watchlist
Amber Amber List (moderate evidence)	IFT81	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS RetNet Phenotypes Short-rib thoracic dysplasia 19 with or without polydactyly, OMIM:617895,MONDO:0033485 Tags
Amber Amber List (moderate evidence)	JAG1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS RetNet Phenotypes Alagille syndrome 1, OMIM:118450 Tags
Amber Amber List (moderate evidence)	KIF3B	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Literature Phenotypes hepatic fibrosis Retinitis pigmentosa 89, OMIM:618955, MONDO:0030071 postaxial polydactyly Tags watchlist
Amber Amber List (moderate evidence)	LIG3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes gut dysmotility spasticity ataxia repetitive behaviours neurogenic bladder macular degeneration leukoencephalopathy cerebellar atrophy mitochondrial DNA depletion Tags watchlist
Amber Amber List (moderate evidence)	MAPKAPK3	1 review	Not set	Sources Expert Review Amber NHS GMS RetNet Tags
Amber Amber List (moderate evidence)	MCOLN1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	MIR204	3 reviews 2 green	Not set	Sources Expert Review Amber NHS GMS RetNet Phenotypes ?Retinal dystrophy and iris coloboma with or without cataract, OMIM:616722 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome MONDO:0014747 Tags locus-type-rna-micro Q3_23_NHS_review Q3_23_promote_green
Amber Amber List (moderate evidence)	MPDZ	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM:615219 Tags Q3_23_NHS_review Q3_23_promote_green
Amber Amber List (moderate evidence)	MT-TH	1 review	MITOCHONDRIAL	Sources Expert Review Amber NHS GMS RetNet Tags
Amber Amber List (moderate evidence)	MT-TP	1 review	MITOCHONDRIAL	Sources Expert Review Amber NHS GMS RetNet Tags
Amber Amber List (moderate evidence)	MT-TS2	1 review	MITOCHONDRIAL	Sources Expert Review Amber NHS GMS RetNet Tags
Amber Amber List (moderate evidence)	MVK	5 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber NHS GMS Phenotypes Hyper-IgD syndrome, OMIM:260920 Mevalonic aciduria, OMIM:610377 Tags
Amber Amber List (moderate evidence)	NBAS	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS RetNet Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly, OMIM:614800 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome, MONDO:0013889 Tags Q3_23_NHS_review Q3_23_promote_green
Amber Amber List (moderate evidence)	OPN1SW	1 review	Not set	Sources Expert Review Amber NHS GMS RetNet Tags
Amber Amber List (moderate evidence)	PDE6H	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Retinal Cone Dystrophy 3, 610024 Achromatopsia 6, 610024 Eye Disorders Achromatopsia, Cone, and Cone-rod Dystrophy Tags
Amber Amber List (moderate evidence)	PGK1	1 review	Not set	Sources Expert Review Amber NHS GMS RetNet Tags
Amber Amber List (moderate evidence)	POC5	1 review	Not set	Sources Expert Review Amber NHS GMS RetNet Tags
Amber Amber List (moderate evidence)	POMGNT2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber NHS GMS Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8, OMIM:614830 Tags
Amber Amber List (moderate evidence)	PYGM	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes macular dystrophy, retinal, MONDO:0031166 Tags Q3_23_NHS_review Q3_23_promote_green
Amber Amber List (moderate evidence)	RDH11	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS RetNet Phenotypes ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, OMIM:616108 Tags
Amber Amber List (moderate evidence)	RTN4IP1	1 review	Not set	Sources Expert Review Amber NHS GMS RetNet Tags
Amber Amber List (moderate evidence)	SAMD11	1 review	Not set	Sources Expert Review Amber NHS GMS RetNet Tags
Amber Amber List (moderate evidence)	SEMA4A	3 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Achromatopsia, Cone, and Cone-rod Dystrophy Eye Disorders Cone-rod dystrophy 10, 610283 Retinitis pigmentosa 35, 610282 Retinitis Pigmentosa, Recessive Retinitis pigmentosa Tags
Amber Amber List (moderate evidence)	SLC25A46	1 review	Not set	Sources Expert Review Amber NHS GMS RetNet Tags
Amber Amber List (moderate evidence)	SLC37A3	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS Phenotypes Retinitis pigmentosa No OMIM entry Tags
Amber Amber List (moderate evidence)	SPG7	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Spastic paraplegia 7, autosomal recessive, OMIM:607259 hereditary spastic paraplegia 7, MONDO:0011803 Tags
Amber Amber List (moderate evidence)	SPP2	1 review	Not set	Sources Expert Review Amber NHS GMS RetNet Tags
Amber Amber List (moderate evidence)	SPTLC1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes macular telangiectasia type 2 vision loss Tags watchlist
Amber Amber List (moderate evidence)	TTPA	1 review	Not set	Sources Expert Review Amber NHS GMS RetNet Tags
Red Red List (low evidence)	ADGRA3	3 reviews 1 red	Not set	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	AMN	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Tags
Red Red List (low evidence)	AP3B2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Developmental and epileptic encephalopathy 48, OMIM:617276, MONDO:0015000 Tags
Red Red List (low evidence)	ARMS2	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS Phenotypes Macular Degeneration Tags
Red Red List (low evidence)	ATP13A2	2 reviews 1 red	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	ATXN7	2 reviews	Other	Sources Expert Review Red NHS GMS RetNet Phenotypes Spinocerebellar ataxia 7, OMIM:164500 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	B3GLCT	3 reviews	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	BBIP1	2 reviews 1 red	Not set	Sources Expert Review Red NHS GMS Phenotypes Genetic Retinal Degeneration Conditions Tags
Red Red List (low evidence)	BCOR	1 review	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	BMP4	1 review	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	C2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS Phenotypes {Macular degeneration, age-related, 14, reduced risk of}, OMIM:615489 Tags
Red Red List (low evidence)	C3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS Phenotypes Macular Degeneration Tags
Red Red List (low evidence)	C5orf42	2 reviews 1 green	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags new-gene-name
Red Red List (low evidence)	CA4	4 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS Phenotypes Retinitis pigmentosa 17, OMIM:600852, MONDO:0010945 Tags
Red Red List (low evidence)	CCZ1B	2 reviews 2 red	Not set	Sources Literature NHS GMS Phenotypes Retinitis pigmentosa Tags
Red Red List (low evidence)	CEP41	1 review	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	CFB	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS Phenotypes Macular Degeneration Tags
Red Red List (low evidence)	CIB2	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	COL11A2	2 reviews 1 green	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	COQ4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Coenzyme Q10 deficiency, primary, 7, OMIM:616276 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, MONDO:0014562 Tags
Red Red List (low evidence)	CROCC	2 reviews 2 red	Not set	Sources Literature NHS GMS Phenotypes Retinitis pigmentosa Tags
Red Red List (low evidence)	CTSF	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Ceroid lipofuscinosis, neuronal, 13, Kufs type, OMIM:615362 Tags
Red Red List (low evidence)	CUBN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Megaloblastic anemia-1, Finnish type Tags
Red Red List (low evidence)	CYP1B1	1 review	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	CYP27A1	1 review 1 red	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	DTHD1	3 reviews 2 red	Not set	Sources Expert Review Red NHS GMS Phenotypes No OMIM disease ID Tags
Red Red List (low evidence)	EMC1	3 reviews 2 red	Not set	Sources Expert Review Red NHS GMS Phenotypes No OMIM disease ID Tags
Red Red List (low evidence)	FAM71A	2 reviews 2 red	Not set	Sources Literature NHS GMS Phenotypes Retinitis pigmentosa Tags
Red Red List (low evidence)	FBLN5	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS Phenotypes Macular degeneration, age-related, 3, OMIM:608895 Neuropathy, hereditary, with or without age-related macular degeneration, OMIM:608895 Tags
Red Red List (low evidence)	FOXC1	1 review 1 red	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	FOXE3	1 review 1 red	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	FOXI2	2 reviews 2 red	Not set	Sources Literature NHS GMS Phenotypes Retinitis pigmentosa Tags
Red Red List (low evidence)	FRAS1	1 review 1 red	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	FREM1	1 review 1 red	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	FREM2	1 review 1 red	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	FSCN2	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS Phenotypes Macular Dystrophy/Degeneration/Stargardt Disease Eye Disorders Retinitis pigmentosa Retinitis pigmentosa 30, 607921 Tags
Red Red List (low evidence)	FUT5	2 reviews 2 red	Not set	Sources Literature NHS GMS Phenotypes Retinal dystrophy Tags
Red Red List (low evidence)	GNPTAB	1 review 1 green	Not set	Sources NHS GMS Tags
Red Red List (low evidence)	GP1BA	1 review 1 red	Not set	Sources Expert Review Red NHS GMS Phenotypes Bernard-Soulier syndrome, type A1 (recessive), 231200 Tags
Red Red List (low evidence)	GRIP1	1 review 1 red	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	HARS	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Usher syndrome type 3B Usher syndrome Tags new-gene-name
Red Red List (low evidence)	HKDC1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Retinitis pigmentosa 92, OMIM:619614 Tags
Red Red List (low evidence)	HMCN1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS Phenotypes Macular Degeneration Tags
Red Red List (low evidence)	HTRA1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS Phenotypes Macular Degeneration Tags
Red Red List (low evidence)	INVS	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Nephronophthisis 2, infantile Tags
Red Red List (low evidence)	IRX5	4 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature NHS GMS Phenotypes cone dystrophy, MONDO:0000455 retinitis pigmentosa, MONDO:0019200 Tags cnv
Red Red List (low evidence)	IRX6	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes cone dystrophy, MONDO:0000455 Tags cnv
Red Red List (low evidence)	ITIH2	2 reviews 2 red	Not set	Sources Literature NHS GMS Phenotypes Stargardt disease Tags
Red Red List (low evidence)	ITM2B	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red NHS GMS Phenotypes ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities (OMIM) Tags
Red Red List (low evidence)	KCTD7	1 review 1 red	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	KIF7	1 review	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	LRMDA	3 reviews 1 green 1 red	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	LRP1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Macular drusen Tags
Red Red List (low evidence)	MFN2	1 review	Not set	Sources Expert Review Red NHS GMS Phenotypes Optic Atrophy Eye Disorders Tags
Red Red List (low evidence)	MT-ATP6	1 review	MITOCHONDRIAL	Sources Expert Review Red NHS GMS Phenotypes Retinitis pigmentosa Tags
Red Red List (low evidence)	MT-ND1	1 review	MITOCHONDRIAL	Sources Expert Review Red NHS GMS Tags
Red Red List (low evidence)	MT-ND4	1 review	MITOCHONDRIAL	Sources Expert Review Red NHS GMS Tags
Red Red List (low evidence)	MT-ND6	2 reviews	MITOCHONDRIAL	Sources Expert Review Red NHS GMS Tags watchlist
Red Red List (low evidence)	MT-TL1	1 review	MITOCHONDRIAL	Sources Expert Review Red NHS GMS Phenotypes Retinitis pigmentosa Tags
Red Red List (low evidence)	MYOC	1 review 1 red	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	NAALADL1	2 reviews 2 red	Not set	Sources Literature NHS GMS Phenotypes Retinitis pigmentosa Tags
Red Red List (low evidence)	NEK2	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes ?Retinitis pigmentosa 67, 615565 Tags
Red Red List (low evidence)	NR2F1	2 reviews 1 green 1 red	Not set	Sources Expert Review Red NHS GMS Phenotypes Bosch-Boonstra-Schaaf optic atrophy syndrome, 615722 Tags
Red Red List (low evidence)	NUMB	2 reviews 2 red	Not set	Sources Literature NHS GMS Phenotypes Cone-rod dystrophy Tags
Red Red List (low evidence)	OCA2	3 reviews 2 green 1 red	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	OPA1	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS Phenotypes Optic atrophy 1, OMIM:165500 Optic atrophy plus syndrome, OMIM:125250 Tags
Red Red List (low evidence)	OPA3	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS Phenotypes Autosomal Dominant Optic Atrophy Eye Disorders Tags
Red Red List (low evidence)	OR2M7	2 reviews 2 red	Not set	Sources Literature NHS GMS Phenotypes Other (any phenotype with frequency of fewer than eight individuals) Tags
Red Red List (low evidence)	PAK2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Knobloch 2 syndrome Tags
Red Red List (low evidence)	PAX6	4 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Eligibility statement prior genetic testing Expert Review Red NHS GMS Phenotypes Foveal Hypoplasia and Presenile Cataract Syndrome Developmental macular and foveal dystrophy (foveal hypoplasia in the context of aniridia) Tags
Red Red List (low evidence)	PDAP1	1 review 1 red	Not set	Sources Expert Review Red NHS GMS Phenotypes Retinitis Pigmentosa Tags
Red Red List (low evidence)	PDZD7	1 review	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	PITPNM3	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS Phenotypes Achromatopsia, Cone, and Cone-rod Dystrophy Eye Disorders Cone-Rod Dystrophy, Dominant Cone-rod dystrophy 5, 600977 Tags
Red Red List (low evidence)	PITX2	1 review 1 red	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	PITX3	1 review 1 red	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	PLD4	2 reviews 2 red	Not set	Sources Literature NHS GMS Phenotypes Usher syndrome Tags
Red Red List (low evidence)	PODNL1	2 reviews 2 red	Not set	Sources Literature NHS GMS Phenotypes Retinal dystrophy Tags
Red Red List (low evidence)	POMZP3	2 reviews 2 red	Not set	Sources Literature NHS GMS Phenotypes Cone dystrophy Tags
Red Red List (low evidence)	PRTFDC1	2 reviews 2 red	Not set	Sources Literature NHS GMS Phenotypes Retinitis pigmentosa Tags
Red Red List (low evidence)	RB1	1 review	Not set	Sources Expert Review Red NHS GMS Phenotypes Retinoblastoma Tags
Red Red List (low evidence)	RGS9BP	1 review	Not set	Sources Expert Review Red NHS GMS Phenotypes Achromatopsia, Cone, and Cone-rod Dystrophy Eye Disorders Tags
Red Red List (low evidence)	RIMS1	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS Phenotypes Achromatopsia, Cone, and Cone-rod Dystrophy Eye Disorders Cone-Rod Dystrophy, Dominant Cone-rod dystrophy 7, 603649 Tags
Red Red List (low evidence)	SLC24A5	2 reviews 1 green 1 red	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	SLC45A2	2 reviews 1 green 1 red	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	SLC7A14	1 review 1 red	Not set	Sources Expert Review Red NHS GMS Phenotypes Retinitis pigmentosa 68, 615725 (3) Tags
Red Red List (low evidence)	SMOC1	1 review 1 red	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	SOX2	1 review	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Retinitis pigmentosa 33, 610359 Tags
Red Red List (low evidence)	SPTLC2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes macular telangiectasia type 2 vision loss neuropathy Tags
Red Red List (low evidence)	STRA6	1 review 1 red	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	TCTN1	1 review 1 red	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	TCTN2	1 review 1 red	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	TCTN3	1 review 1 red	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	TEAD1	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS Tags
Red Red List (low evidence)	TEX28	1 review 1 red	Not set	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	TMEM126A	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Optic Atrophy, Recessive Eye Disorders Tags
Red Red List (low evidence)	TMEM67	1 review 1 green	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	TRIM32	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Bardet-Biedl syndrome 11, OMIM:615988 Tags
Red Red List (low evidence)	TTC21B	1 review 1 red	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	TYR	2 reviews 1 green 1 red	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	TYRP1	2 reviews 1 green 1 red	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	UBAP1L	2 reviews 2 red	Not set	Sources Literature NHS GMS Phenotypes Retinitis pigmentosa Tags
Red Red List (low evidence)	VAX1	1 review 1 red	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	VSX2	1 review 1 red	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	WASF3	2 reviews 2 red	Not set	Sources Literature NHS GMS Phenotypes Cone-rod dystrophy Tags
Red Red List (low evidence)	WFS1	1 review 1 red	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	WT1	1 review 1 red	Not set	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Tags
Red Red List (low evidence)	ZNF513	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Retinitis Pigmentosa, Dominant Retinitis pigmentosa Retinitis pigmentosa 58, 613617 Tags
Red Red List (low evidence)	ZPR1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes ?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321 Tags founder-effect
No list No list	EVR3	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Removed Phenotypes Exudative vitreoretinopathy 3 Tags curated_removed ensembl_ids_known_missing locus-type-phenotype-only
No list No list	VWA8	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes ?Retinitis pigmentosa 97 Tags

Major version comments

2023-03-22 15:34 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 4.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (4.0) following this.

2022-11-30 14:57 Arina Puzriakova (Genomics England Curator) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

2019-11-19 11:09 Ivone Leong (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.203) was signed off under NHS Genomic Medicine Service governance on (19/11/2019). The panel was promoted to the next major version (version 2.0) as a result of this.

Aligned with Manchester eye panel.

Retinal disorders (Version 4.42)

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