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

34 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

  • Nour Elkhateeb (Cambridge University Hospitals NHS Foundation Trust)

    Group: NHS Genomic Medicine Centre
    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

423 Entities

423 reviewed, 261 green

List Entity Reviews Mode of inheritance Details
423 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
4 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 49, OMIM:613756
Tags
  • Q1_24_MOI
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, OMIM: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
3 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
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cone-rod dystrophy 11, OMIM:610381
  • Retinitis pigmentosa 95, OMIM:620102
  • ?Macular degeneration, age-related, 6, OMIM:613757
Tags
  • Q1_24_MOI
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
4 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
  • Q2_24_expert_review
  • Q2_24_MOI
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
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Leber congenital amaurosis 2, OMIM:204100 (AR)
  • Retinitis pigmentosa 20, OMIM:613794 (AR)
  • Retinitis pigmentosa 87 with choroidal involvement, OMIM:618697 (AD)
Tags
  • gene-therapy-trial
  • Q4_23_MOI
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
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
  • RetNet
Phenotypes
  • Alagille syndrome 1, OMIM:118450
  • exudative vitreoretinopathy, MONDO:0019516
Tags
  • Q1_24_NHS_review
  • Q1_24_promote_green
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)
LRRC32
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cleft palate, proliferative retinopathy, and developmental delay, OMIM:619074
Tags
  • founder-effect
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 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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-ATP6
3 reviews
2 green 		MITOCHONDRIAL
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • NARP syndrome, MONDO:0010794
Tags
  • gene-checked
  • Q2_24_NHS_review
  • Q2_24_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-TL1
3 reviews
2 green 		MITOCHONDRIAL
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Retinal dystrophy, HP:0000556
  • Macular dystrophy, HP:0007754
Tags
  • Q1_24_NHS_review
  • Q1_24_promote_green
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
7 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Hyper-IgD syndrome, OMIM:260920
  • Mevalonic aciduria, OMIM:610377
  • retinitis pigmentosa, MONDO:0019200
Tags
  • Q4_23_NHS_review
  • Q4_23_promote_green
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)
SAMD7
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • macular dystrophy, retinal, MONDO:0031166
  • Congenital stationary cone dysfunction, HP:0030637
Tags
  • Q1_24_NHS_review
  • Q1_24_promote_green
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
5 reviews
3 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • retinitis pigmentosa, MONDO:0019200
Tags
  • Q2_24_NHS_review
  • Q2_24_promote_green
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)
TTC21B
4 reviews
3 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Retinal dystrophy, HP:0000556
Tags
  • Q1_24_NHS_review
  • Q1_24_promote_green
Amber Amber List (moderate evidence)
TTPA
1 review
 Not set
Sources
  • Expert Review Amber
  • NHS GMS
  • RetNet
Tags
Amber Amber List (moderate evidence)
UBAP1L
4 reviews
2 green 2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Rod-cone dystrophy, HP:0000510
  • cone-rod dystrophy, MONDO:0015993
  • retinitis pigmentosa, MONDO:0019200
Tags
  • Q1_24_NHS_review
  • Q1_24_promote_green
Amber Amber List (moderate evidence)
VWA8
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Retinitis pigmentosa 97, OMIM:620422
Tags
  • watchlist
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-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)
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)
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)
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
ATXN7_CAG
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Maculopaty
  • Cone-Rod Dystrophy
Tags
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

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