Retinal Disorders Superpanel (Version 6.511)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 579 Entitiess
Green Green List (high evidence)	ABCA4 Cone-rod Dystrophy v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Disease associations Cone-rod dystrophy 3, 604116 Tags
Green Green List (high evidence)	ABCA4 Macular Dystrophy/Stargardt Disease v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa 19, 601718 Fundus flavimaculatus, 248200 Retinal dystrophy, early-onset severe, 248200 Macular degeneration, age-related, 2, 153800 Cone-rod dystrophy 3, 604116 Stargardt disease 1, 248200 Tags deep intronic
Green Green List (high evidence)	ABCA4 Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Macular Degeneration (Dominant) Stargardt disease 1, 248200 Macular degeneration, age-related, 2, 153800 Achromatopsia, Cone, and Cone-rod Dystrophy Retinal dystrophy, early-onset severe, 248200 Stargardt Disease, Recessive Retinitis pigmentosa 19, 601718 Cone-rod dystrophy 3, 604116 Macular Dystrophy/Degeneration/Stargardt Disease Fundus flavimaculatus, 248200 Tags deep intronic
Green Green List (high evidence)	ABCC6 Syndromic Retinopathy v1.2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Disease associations Pseudoxanthoma elasticum, MIM#264800 Tags SV/CNV
Green Green List (high evidence)	ABHD12 Retinitis pigmentosa v1.14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations nonsyndromic retinitis pigmentosa Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857 Tags
Green Green List (high evidence)	ABHD12 Syndromic Retinopathy v1.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list RetNet Victorian Clinical Genetics Services Disease associations Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674 Tags
Green Green List (high evidence)	ABHD12 Usher Syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Disease associations Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857 Usher syndrome type 3 Tags
Green Green List (high evidence)	ACBD5 Syndromic Retinopathy v1.2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Expert list Disease associations Retinal dystrophy with leukodystrophy (MIM#618863) Tags
Green Green List (high evidence)	ACO2 Optic Atrophy v2.9	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Optic atrophy 9, MIM# 616289 Infantile cerebellar-retinal degeneration, MIM# 614559 Tags
Green Green List (high evidence)	ACO2 Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Expert list Victorian Clinical Genetics Services Disease associations Infantile cerebellar-retinal degeneration, MIM#614559 Tags
Green Green List (high evidence)	ADAM9 Cone-rod Dystrophy v1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Cone-rod dystrophy 9, 612775 Tags
Green Green List (high evidence)	ADAMTS18 Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Disease associations microcornea-myopic chorioretinal atrophy (MONDO:0014195) Tags
Green Green List (high evidence)	ADGRV1 Usher Syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Disease associations Usher syndrome, type 2C, MIM# 605472 Tags
Green Green List (high evidence)	AFG3L2 Optic Atrophy v2.9	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Optic atrophy 12, MIM# 618977 Tags
Green Green List (high evidence)	AGBL5 Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa 75 617023 Tags
Green Green List (high evidence)	AHI1 Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations nonsyndromic retinitis pigmentosa Joubert syndrome 17 Tags
Green Green List (high evidence)	AHI1 Syndromic Retinopathy v1.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Joubert syndrome 3, MIM# 608629 Tags
Green Green List (high evidence)	AIPL1 Cone-rod Dystrophy v1.0	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Leber congenital amaurosis 4, 604393 Cone-rod dystrophy, 604393 Retinitis pigmentosa, juvenile, 604393 Tags
Green Green List (high evidence)	AIPL1 Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations AIPL1-related retinopathy (MONDO:0100438) Tags
Green Green List (high evidence)	AIRE Syndromic Retinopathy v1.2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300 Tags
Green Green List (high evidence)	ALMS1 Syndromic Retinopathy v1.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Alstrom syndrome Tags
Green Green List (high evidence)	ALMS1 Bardet Biedl syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Alstrom syndrome, MIM# 203800 Tags
Green Green List (high evidence)	ALPK1 Syndromic Retinopathy v1.2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Disease associations Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH) syndrome, MIM#614979 Tags
Green Green List (high evidence)	AMACR Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Alpha-methylacyl-CoA racemase deficiency, MIM# 614307 Tags
Green Green List (high evidence)	ANTXR1 Optic Atrophy v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations GAPO syndrome, MIM# 230740 Tags
Green Green List (high evidence)	AP3B2 Optic Atrophy v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Early-onset epileptic encephalopathy with optic atrophy, MIM#617276 Tags
Green Green List (high evidence)	AP5B1 Macular Dystrophy/Stargardt Disease v1.2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Hereditary macular dystrophy MONDO:0020242, AP-5 complex-related Tags
Green Green List (high evidence)	AP5M1 Macular Dystrophy/Stargardt Disease v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Hereditary macular dystrophy MONDO:0020242, AP-5 complex-related Tags
Green Green List (high evidence)	AP5Z1 Macular Dystrophy/Stargardt Disease v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Hereditary macular dystrophy MONDO:0020242 Tags
Green Green List (high evidence)	ARHGEF18 Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa 78 617433 Tags
Green Green List (high evidence)	ARL13B Syndromic Retinopathy v1.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Joubert syndrome 8 MIM#612291 Tags
Green Green List (high evidence)	ARL2BP Syndromic Retinopathy v1.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Retinitis pigmentosa 82 with or without situs inversus, MIM# 615434 Tags
Green Green List (high evidence)	ARL2BP Retinitis pigmentosa v1.14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa with or without situs inversus, 615434 Tags
Green Green List (high evidence)	ARL3 Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Joubert syndrome 35 MIM#618161 Tags
Green Green List (high evidence)	ARL6 Bardet Biedl syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 3, MIM# 600151 Tags
Green Green List (high evidence)	ARSG Usher Syndrome v2.0	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Usher syndrome, type IV, 618144 Tags
Green Green List (high evidence)	ATAD3A Optic Atrophy v2.9	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Harel-Yoon syndrome, MIM#617183 Tags
Green Green List (high evidence)	ATF6 Achromatopsia v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Achromatopsia 7 MIM#616517 Tags
Green Green List (high evidence)	ATG7 Optic Atrophy v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spinocerebellar ataxia, SCAR31, MIM#619422 Tags
Green Green List (high evidence)	ATOH7 Vitreoretinopathy v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Persistent hyperplastic primary vitreous, autosomal recessive, MIM# 221900 microphthalmia cataract glaucoma congenital retinal nonattachment Tags
Green Green List (high evidence)	ATXN7_SCA7_CAG STR Syndromic Retinopathy v1.2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Spinocerebellar ataxia 7 MIM#164500 Tags
Green Green List (high evidence)	BBIP1 Bardet Biedl syndrome v2.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Bardet-Biedl syndrome 18, MIM#615995 Tags
Green Green List (high evidence)	BBS1 Retinitis pigmentosa v1.14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa Tags
Green Green List (high evidence)	BBS1 Bardet Biedl syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 1, MIM# 209900 Tags
Green Green List (high evidence)	BBS10 Bardet Biedl syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 10, MIM# 615987 Tags
Green Green List (high evidence)	BBS12 Bardet Biedl syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 12, MIM# 615989 Tags
Green Green List (high evidence)	BBS2 Bardet Biedl syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 2, MIM# 615981 Tags
Green Green List (high evidence)	BBS2 Retinitis pigmentosa v1.14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Bardet-Biedl syndrome 2 Retinitis pigmentosa 74 Tags
Green Green List (high evidence)	BBS4 Bardet Biedl syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 4, MIM#615982 MONDO:0014433 Tags
Green Green List (high evidence)	BBS5 Bardet Biedl syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 5, MIM#615983 MONDO:0014434 Tags
Green Green List (high evidence)	BBS7 Bardet Biedl syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 7, MIM# 615984 MONDO:0014435 Tags
Green Green List (high evidence)	BBS9 Bardet Biedl syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 9, MIM#615986 MONDO:0014437 Tags
Green Green List (high evidence)	BEST1 Vitreoretinopathy v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Vitreoretinochoroidopathy, MIM# 193220 Tags
Green Green List (high evidence)	BEST1 Macular Dystrophy/Stargardt Disease v1.2	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Best macular dystrophy, 153700 Vitelliform macular dystrophy, adult-onset, 608161 Vitreoretinochoroidopathy, 193220 Bestrophinopathy, 611809 Maculopathy, bull's-eye Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1 Tags
Green Green List (high evidence)	BEST1 Retinitis pigmentosa v1.14	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1 Maculopathy, bull's-eye Best Vitelliform Macular Dystrophy Best macular dystrophy, 153700 Vitreoretinochoroidopathy, 193220 Retinitis pigmentosa Retinitis Pigmentosa, Recessive Bestrophinopathy, 611809 Vitelliform macular dystrophy, adult-onset, 608161 Tags
Green Green List (high evidence)	BLOC1S1 Optic Atrophy v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), BLOC1S1-related Tags
Green Green List (high evidence)	BORCS5 Optic Atrophy v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodegeneration, infantile-onset, with optic atrophy and structural brain abnormalities 2, MIM# 621704 Tags
Green Green List (high evidence)	BORCS8 Optic Atrophy v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987 Tags
Green Green List (high evidence)	C19orf12 Optic Atrophy v2.9	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations ?Spastic paraplegia 43, autosomal recessive 61504 Neurodegeneration with brain iron accumulation 4 614298 Tags
Green Green List (high evidence)	C19orf44 Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Late onset retinal dystrophy, MONDO:0019118 Tags
Green Green List (high evidence)	C1QTNF5 Retinitis pigmentosa v1.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Disease associations Retinal degeneration, late-onset, autosomal dominant MIM#605670 Tags
Green Green List (high evidence)	C1QTNF5 Macular Dystrophy/Stargardt Disease v1.2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Disease associations Retinal degeneration, late-onset, autosomal dominant, 605670 Retinitis pigmentosa Tags
Green Green List (high evidence)	CABP4 Congenital Stationary Night Blindness v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427 Tags
Green Green List (high evidence)	CACNA1F Retinitis pigmentosa v1.14	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Disease associations X-linked retinitis pigmentosa Tags
Green Green List (high evidence)	CACNA1F Cone-rod Dystrophy v1.0	0 reviews	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 Royal Melbourne Hospital Disease associations Cone-rod dystropy, X-linked, 3, 300476 Tags
Green Green List (high evidence)	CACNA1F Congenital Stationary Night Blindness v1.0	0 reviews	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 Royal Melbourne Hospital Disease associations Cone-rod dystropy, X-linked, 3, 300476 Aland Island eye disease, 300600 Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071 Tags
Green Green List (high evidence)	CACNA2D4 Cone-rod Dystrophy v1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinal cone dystrophy 4, 610478 Tags
Green Green List (high evidence)	CACNA2D4 Congenital Stationary Night Blindness v1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinal cone dystrophy 4, 610478 Congenital Stationary Night Blindness Tags
Green Green List (high evidence)	CAPN5 Vitreoretinopathy v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Vitreoretinopathy, neovascular inflammatory, MIM# 193235 Tags
Green Green List (high evidence)	CC2D2A Syndromic Retinopathy v1.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Disease associations COACH syndrome, MIM#216360 Joubert syndrome 9, MIM#612285 Meckel syndrome 6, MIM#612284 Retinitis pigmentosa 93, MIM# 619845 Tags
Green Green List (high evidence)	CDH23 Usher Syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Usher syndrome, type 1D 601067 Usher syndrome, type 1D/F digenic 601067 Tags
Green Green List (high evidence)	CDH3 Macular Dystrophy/Stargardt Disease v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 Tags
Green Green List (high evidence)	CDHR1 Macular Dystrophy/Stargardt Disease v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Genetic macular dystrophy MONDO:0020242 Tags
Green Green List (high evidence)	CDHR1 Cone-rod Dystrophy v1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Cone-rod dystrophy 15, 613660 Tags
Green Green List (high evidence)	CDHR1 Retinitis pigmentosa v1.14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Achromatopsia, Cone, and Cone-rod Dystrophy Cone-Rod Dystrophy, Recessive Retinitis pigmentosa 65 Cone-rod dystrophy 15, 613660 Tags
Green Green List (high evidence)	CDK9 Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome MONDO:0015160 CHARGE-like syndrome with retinal dystrophy Tags
Green Green List (high evidence)	CEP164 Bardet Biedl syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Bardet-Biedl syndrome Tags
Green Green List (high evidence)	CEP164 Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	CEP250 Usher Syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Usher-like disease Cone-rod dystrophy and hearing loss 2, 618358 Tags
Green Green List (high evidence)	CEP290 Bardet Biedl syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 14, MIM# 615991 Tags
Green Green List (high evidence)	CEP290 Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Expert Review Green Victorian Clinical Genetics Services Disease associations Meckel syndrome 4, 611134 Senior-Loken syndrome 6, 610189 Bardet-Biedl syndrome 14, 209900 Leber congenital amaurosis 10, 611755 Joubert syndrome 5, 610188 Tags
Green Green List (high evidence)	CEP290 Retinitis pigmentosa v1.14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Senior-Loken syndrome 6, 610189 Meckel syndrome 4, 611134 Leber congenital amaurosis 10, 611755 Joubert syndrome 5, 610188 Bardet-Biedl syndrome 14, 209900 Tags
Green Green List (high evidence)	CEP76 Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations complex neurodevelopmental disorder MONDO:0100038 Joubert syndrome Bardet-Biedl syndrome retinitis pigmentosa Tags
Green Green List (high evidence)	CEP78 Usher Syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert list Disease associations Cone-Rod Dystrophy and Hearing Loss, 617236 Tags
Green Green List (high evidence)	CEP83 Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Nephronophthisis 18, MIM# 615862 MONDO:0014374 Retinal dystrophy ID Tags
Green Green List (high evidence)	CERKL Retinitis pigmentosa v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa 26, MIM# 608380 Tags
Green Green List (high evidence)	CERKL Cone-rod Dystrophy v1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Cone-rod dystrophy Tags
Green Green List (high evidence)	CERKL Macular Dystrophy/Stargardt Disease v1.2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Retinitis pigmentosa 26, 608380 Tags
Green Green List (high evidence)	CFAP20 Retinitis pigmentosa v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Retinitis pigmentosa 107, MIM# 621587 Tags
Green Green List (high evidence)	CFAP410 Cone-rod Dystrophy v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinal dystrophy with macular staphyloma, 617547 Tags new gene name
Green Green List (high evidence)	CFAP418 Cone-rod Dystrophy v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Disease associations Cone-rod dystrophy 16, 614500 Retinitis pigmentosa 64, 614500 Tags
Green Green List (high evidence)	CFAP418 Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Achromatopsia, Cone, and Cone-rod Dystrophy Retinitis pigmentosa 64, 614500 Tags
Green Green List (high evidence)	CFH Macular Dystrophy/Stargardt Disease v1.2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Disease associations Basal laminar drusen, 126700 Tags
Green Green List (high evidence)	CHM Congenital Stationary Night Blindness v1.0	0 reviews	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 Royal Melbourne Hospital Disease associations Choroideremia (degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye) Tags
Green Green List (high evidence)	CHM Retinitis pigmentosa v1.14	0 reviews	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 Royal Melbourne Hospital Disease associations Retinitis pigmentosa Choroideremia (degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye) Tags
Green Green List (high evidence)	CISD2 Optic Atrophy v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Wolfram syndrome 2, MIM#604928 Tags
Green Green List (high evidence)	CLCN2 Syndromic Retinopathy v1.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Disease associations Leukoencephalopathy with ataxia MIM# 615651 Tags
Green Green List (high evidence)	CLEC3B Macular Dystrophy/Stargardt Disease v1.2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Macular dystrophy, retinal, 4, OMIM #619977 Tags founder
Green Green List (high evidence)	CLN3 Retinitis pigmentosa v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa 101, MIM# 621548 Tags
Green Green List (high evidence)	CLN3 Syndromic Retinopathy v1.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Juvenile neuronal ceroid lipofuscinosis Retinitis pigmentosa Tags
Green Green List (high evidence)	CLN5 Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Ceroid lipofuscinosis, neuronal, 5 OMIM #256731 Tags
Green Green List (high evidence)	CLN6 Syndromic Retinopathy v1.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Disease associations Ceroid lipofuscinosis, neuronal, 6 OMIM #601780 Tags
Green Green List (high evidence)	CLN8 Syndromic Retinopathy v1.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Disease associations Ceroid lipofuscinosis, neuronal, 8 OMIM #600143 Tags
Green Green List (high evidence)	CLRN1 Usher Syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Usher syndrome, type 3A, 276902 Retinitis pigmentosa 61, 614180 Tags
Green Green List (high evidence)	CLRN1 Retinitis pigmentosa v1.14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa 61, 614180 Tags
Green Green List (high evidence)	CNGA1 Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa 49, 613756 Tags
Green Green List (high evidence)	CNGA3 Achromatopsia v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Achromatopsia 2 MIM#216900 Tags
Green Green List (high evidence)	CNGA3 Cone-rod Dystrophy v1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Achromatopsia 2MIM#216900 Tags
Green Green List (high evidence)	CNGB1 Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa 45, MIM#613767 Tags
Green Green List (high evidence)	CNGB3 Achromatopsia v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Achromatopsia 3 MIM#262300 Tags
Green Green List (high evidence)	CNGB3 Cone-rod Dystrophy v1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Achromatopsia-3, 262300 Tags
Green Green List (high evidence)	CNGB3 Macular Dystrophy/Stargardt Disease v1.2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Macular degeneration, juvenile, 248200 -3 Achromatopsia-3, 262300 Stargardt Disease, Recessive Tags
Green Green List (high evidence)	CNNM4 Syndromic Retinopathy v1.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Expert Review Green Disease associations Jalili syndrome MIM#217080 Tags
Green Green List (high evidence)	COL11A1 Stickler Syndrome v2.0	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Stickler syndrome, type II, MIM# 604841, MONDO:0011493 Tags
Green Green List (high evidence)	COL11A1 Syndromic Retinopathy v1.2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources RetNet Expert Review Green Disease associations Stickler syndrome, type II, MIM#604841 Tags
Green Green List (high evidence)	COL11A2 Stickler Syndrome v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Stickler syndrome type 3 Tags
Green Green List (high evidence)	COL18A1 Vitreoretinopathy v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Knobloch syndrome, type 1, MIM# 267750 Tags
Green Green List (high evidence)	COL2A1 Syndromic Retinopathy v1.2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources RetNet Expert Review Green Disease associations Stickler syndrome, type I Tags
Green Green List (high evidence)	COL2A1 Stickler Syndrome v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Stickler syndrome, type I, MIM# 108300 Tags
Green Green List (high evidence)	COL9A1 Stickler Syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Stickler syndrome, type IV, MIM# 614134 Tags
Green Green List (high evidence)	COL9A2 Stickler Syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Stickler syndrome, type V, MIM# 614284 Tags
Green Green List (high evidence)	COL9A3 Stickler Syndrome v2.0	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other Other Disease associations Stickler syndrome, type VI, MIM# 620022 Deafness, AD Peripheral vitreoretinal degeneration and retinal detachment, AD Tags
Green Green List (high evidence)	COQ8B Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Retinitis pigmentosa MONDO:0019200 Tags
Green Green List (high evidence)	CRB1 Retinitis pigmentosa v1.14	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Leber congenital amaurosis 8 MIM#613835 Pigmented paravenous chorioretinal atrophy MIM#172870 Retinitis pigmentosa-12 MIM#600105 Tags
Green Green List (high evidence)	CRB1 Macular Dystrophy/Stargardt Disease v1.2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Pigmented paravenous chorioretinal atrophy, 172870 Leber congenital amaurosis 8, 613835 Retinitis pigmentosa-12, autosomal recessive, 600105 Tags
Green Green List (high evidence)	CRX Cone-rod Dystrophy v1.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Disease associations Cone-rod retinal dystrophy-2, 120970 Tags
Green Green List (high evidence)	CRX Retinitis pigmentosa v1.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Disease associations Cone-rod retinal dystrophy-2, 120970 Leber congenital amaurosis 7, 613829 Tags
Green Green List (high evidence)	CSPP1 Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Expert Review Green Victorian Clinical Genetics Services Disease associations Genetic Retinal Degeneration Conditions Joubert syndrome 21 Tags
Green Green List (high evidence)	CTC1 Syndromic Retinopathy v1.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Cerebroretinal microangiopathy with calcifications and cysts MIM#612199 Tags
Green Green List (high evidence)	CTNNA1 Macular Dystrophy/Stargardt Disease v1.2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Disease associations Macular dystrophy, butterfly-shaped pigmentary, 2, MIM#608970 Tags
Green Green List (high evidence)	CTNNA1 Vitreoretinopathy v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Familial exudative vitreoretinopathy Tags
Green Green List (high evidence)	CTNNB1 Syndromic Retinopathy v1.2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Disease associations Neurodevelopmental disorder with spastic diplegia and visual defects, MIM# 615075 Tags
Green Green List (high evidence)	CTNNB1 Vitreoretinopathy v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Exudative vitreoretinopathy 7, MIM# 617572 Neurodevelopmental disorder with spastic diplegia and visual defects, MIM# 615075 Tags
Green Green List (high evidence)	CTSD Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Ceroid lipofuscinosis, neuronal, 10, OMIM #610127 Tags
Green Green List (high evidence)	CTSF Syndromic Retinopathy v1.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Disease associations Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM #615362 Tags
Green Green List (high evidence)	CWC27 Retinitis pigmentosa v1.14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa with or without skeletal anomalies, 250410 Tags
Green Green List (high evidence)	CYP2U1 Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Spastic paraplegia 56, autosomal recessive, OMIM:615030 Tags
Green Green List (high evidence)	CYP4V2 Retinitis pigmentosa v1.14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa Bietti crystalline corneoretinal dystrophy, 210370 Tags
Green Green List (high evidence)	DDX41 Syndromic Retinopathy v1.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Inherited retinal dystrophy, MONDO:0019118, DDX41-related Tags preprint
Green Green List (high evidence)	DHDDS Retinitis pigmentosa v1.14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Congenital disorder of glycosylation, type 1bb, MIM# 621567 Tags
Green Green List (high evidence)	DNAJC30 Optic Atrophy v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Leber Hereditary Optic Neuropathy, MIM#619382 Tags
Green Green List (high evidence)	DNM1L Optic Atrophy v2.9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Disease associations Optic atrophy 5 (MIM#610708) Tags
Green Green List (high evidence)	DRAM2 Macular Dystrophy/Stargardt Disease v1.2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Cone-rod dystrophy 21, MIM#616502 Tags
Green Green List (high evidence)	DSCAM Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), DSCAM-related Tags
Green Green List (high evidence)	DYNC2H1 Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations non-syndromic retinitis pigmentosa Tags
Green Green List (high evidence)	EFEMP1 Macular Dystrophy/Stargardt Disease v1.2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Disease associations Doyne honeycomb retinal dystrophy MONDO:0007471 Tags
Green Green List (high evidence)	ELOVL4 Macular Dystrophy/Stargardt Disease v1.2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Green Disease associations Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110 Stargardt disease 3, 600110 Ichthyosis, spastic quadriplegia, and mental retardation, 614457 Tags
Green Green List (high evidence)	ERCC6 Syndromic Retinopathy v1.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Cockayne syndrome, type B MIM#133540 Tags
Green Green List (high evidence)	ERCC8 Syndromic Retinopathy v1.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Disease associations Cockayne syndrome, type A MIM#216400 Tags
Green Green List (high evidence)	EYS Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa 25, 602772 Tags
Green Green List (high evidence)	FAM161A Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa 28, 606068 Retinitis pigmentosa 28 MONDO:0011630 Tags
Green Green List (high evidence)	FDXR Optic Atrophy v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Auditory neuropathy and optic atrophy, MIM#617717 Tags
Green Green List (high evidence)	FLVCR1 Retinitis pigmentosa v1.14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Ataxia, posterior column, with retinitis pigmentosa, 609033 Tags
Green Green List (high evidence)	FLVCR1 Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list RetNet Expert Review Green Disease associations Ataxia, posterior column, with retinitis pigmentosa, 609033 Tags
Green Green List (high evidence)	FLVCR1 Optic Atrophy v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder MONDO:0700092, FLVCR1-related Tags
Green Green List (high evidence)	FSD1L Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Retinitis pigmentosa 109, MIM# 621656 Tags
Green Green List (high evidence)	FZD4 Vitreoretinopathy v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Exudative vitreoretinopathy 1, MIM# 133780 Tags
Green Green List (high evidence)	GNAT1 Congenital Stationary Night Blindness v1.0	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Night blindness, congenital stationary, autosomal dominant 3, 610444 Tags
Green Green List (high evidence)	GNAT2 Achromatopsia v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Achromatopsia 4 MIM#613856 Tags
Green Green List (high evidence)	GNB3 Congenital Stationary Night Blindness v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Night blindness, congenital stationary, type 1H, MIM# 617024 Tags
Green Green List (high evidence)	GNPTG Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Expert Review Green Victorian Clinical Genetics Services Disease associations Mucolipidosis III gamma Genetic Retinal Degeneration Conditions Tags
Green Green List (high evidence)	GPATCH11 Syndromic Retinopathy v1.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Neurodevelopmental disorder, MONDO:0700092, GPATCH11-related Leber congenital amaurosis and developmental delay Tags
Green Green List (high evidence)	GPR179 Congenital Stationary Night Blindness v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 Tags
Green Green List (high evidence)	GRK1 Congenital Stationary Night Blindness v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Oguchi disease-2, 613411 Tags
Green Green List (high evidence)	GRM6 Congenital Stationary Night Blindness v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 Tags
Green Green List (high evidence)	GRN Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Ceroid lipofuscinosis, neuronal, 11, OMIM #614706 Tags
Green Green List (high evidence)	GUCA1A Cone-rod Dystrophy v1.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Cone dystrophy-3, MIM# 602093 Cone-rod dystrophy 14, MIM# 602093 Tags
Green Green List (high evidence)	GUCY2D Cone-rod Dystrophy v1.0	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Cone-rod dystrophy 6 MIM#601777 Tags
Green Green List (high evidence)	GUCY2D Retinitis pigmentosa v1.14	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Achromatopsia, Cone, and Cone-rod Dystrophy Cone-rod dystrophy 6 (AD) Leber congenital amaurosis 1, 204000 Retinitis pigmentosa Tags
Green Green List (high evidence)	GZF1 Stickler Syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Joint laxity, short stature, and myopia, MIM# 617662 Tags
Green Green List (high evidence)	HCCS Syndromic Retinopathy v1.2	1 review 1 green	Other	Sources Expert Review Green Expert list Disease associations Linear skin defects with multiple congenital anomalies 1, MIM# 309801 Tags
Green Green List (high evidence)	HGSNAT Retinitis pigmentosa v1.14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa 73 Tags
Green Green List (high evidence)	HGSNAT Syndromic Retinopathy v1.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Expert Review Green Victorian Clinical Genetics Services Disease associations Retinitis pigmentosa 73 Tags
Green Green List (high evidence)	HIKESHI Optic Atrophy v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Leukodystrophy, hypomyelinating, 13, MIM# 616881 Tags
Green Green List (high evidence)	HK1 Retinitis pigmentosa v1.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Disease associations Retinitis pigmentosa 79, MIM# 617460 Tags
Green Green List (high evidence)	HMX1 Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Disease associations Oculoauricular syndrome, MIM#612109 Tags
Green Green List (high evidence)	IDH3A Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS NHS GMS Disease associations Retinitis pigmentosa, MIM#619007 Leber congenital amaurosis Tags
Green Green List (high evidence)	IDH3B Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Retinitis pigmentosa 46, 612572 Tags
Green Green List (high evidence)	IDH3G Retinitis pigmentosa v1.14	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Retinitis pigmentosa 99, MIM# 301148 Tags
Green Green List (high evidence)	IFT140 Syndromic Retinopathy v1.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Expert Review Green Victorian Clinical Genetics Services Disease associations Retinitis pigmentosa 80 Tags
Green Green List (high evidence)	IFT140 Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa 80, MIM# 617781 Tags
Green Green List (high evidence)	IFT172 Bardet Biedl syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 20, MIM# 619471 Tags
Green Green List (high evidence)	IFT172 Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa 71, MIM#616394 Tags
Green Green List (high evidence)	IFT27 Bardet Biedl syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Bardet-Biedl syndrome 19, MIM#615996 Tags
Green Green List (high evidence)	IFT74 Bardet Biedl syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Bardet-Biedl syndrome 20, MIM# 617119 Tags
Green Green List (high evidence)	IKBKG Syndromic Retinopathy v1.2	1 review 1 green	Other	Sources Expert Review Green Expert list Disease associations Incontinentia pigmenti, MIM# 308300 Tags
Green Green List (high evidence)	IMPDH1 Retinitis pigmentosa v1.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Green Disease associations Retinitis pigmentosa 10, 180105 Leber Congenital Amaurosis Leber congenital amaurosis 11 Tags
Green Green List (high evidence)	IMPG1 Macular Dystrophy/Stargardt Disease v1.2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Macular dystrophy, vitelliform, 4, OMIM:616151 Retinitis pigmentosa, MONDO:0019200 Tags
Green Green List (high evidence)	IMPG2 Retinitis pigmentosa v1.14	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa 56, 613581 Maculopathy, IMPG2 - related Retinitis pigmentosa Tags
Green Green List (high evidence)	IMPG2 Macular Dystrophy/Stargardt Disease v1.2	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Retinitis pigmentosa 56 Maculopathy, IMPG2 - related Tags
Green Green List (high evidence)	INPP5E Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	INTS11 Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, MIM# 620428 Tags
Green Green List (high evidence)	IQCB1 Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Disease associations Leber congenital amaurosis Senior-Loken syndrome 5, MIM# 609254 MONDO:0012225 Tags
Green Green List (high evidence)	NPHP1 deletion ISCA-37405-Loss Region Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Disease associations Nephronophthisis 1, juvenile, MIM# 256100 Joubert syndrome 4, MIM# 609583 Senior-Loken syndrome 1, MIM# 266900 Tags SV/CNV
Green Green List (high evidence)	JAG1 Syndromic Retinopathy v1.2	2 reviews 1 green	Unknown	Sources Expert Review Green Literature RetNet Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	KCNJ13 Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Leber congenital amaurosis 16 MIM#614186 Tags
Green Green List (high evidence)	KCNV2 Cone-rod Dystrophy v1.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinal cone dystrophy 3B MIM#610356 Tags
Green Green List (high evidence)	KIAA1549 Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations retinitis pigmentosa 86 MONDO:0032834 Tags
Green Green List (high evidence)	KIF11 Syndromic Retinopathy v1.2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green RetNet Disease associations Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950 MONDO:0007918 Tags
Green Green List (high evidence)	KIF11 Vitreoretinopathy v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, MIM# 152950 Tags
Green Green List (high evidence)	KIF5A Optic Atrophy v2.9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations myoclonus, intractable, neonatal MONDO:0014979 Leber hereditary optic neuropathy MONDO:0010788 Tags
Green Green List (high evidence)	KIZ Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa 69, MIM# 615780 Tags
Green Green List (high evidence)	KLC2 Optic Atrophy v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spastic paraplegia, optic atrophy, and neuropathy MIM#609541 Tags SV/CNV
Green Green List (high evidence)	KLHL7 Retinitis pigmentosa v1.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Disease associations Retinitis pigmentosa 42, 612943 Tags
Green Green List (high evidence)	LAMA1 Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Disease associations Poretti-Boltshauser syndrome, MIM# 615960 Tags
Green Green List (high evidence)	LCA5 Retinitis pigmentosa v1.14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Leber congenital amaurosis 5, 604537 Tags
Green Green List (high evidence)	LETM1 Optic Atrophy v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089 Tags
Green Green List (high evidence)	LOXL3 Stickler Syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Disease associations Stickler syndrome, MONDO:0019354, LOXL3-related Tags
Green Green List (high evidence)	LRAT Retinitis pigmentosa v1.14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Leber Congenital Amaurosis Leber congenital amaurosis 14 Retinitis pigmentosa, juvenile Retinal dystrophy, early-onset severe, 613341 Tags
Green Green List (high evidence)	LRIT3 Congenital Stationary Night Blindness v1.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 Tags
Green Green List (high evidence)	LRP2 Syndromic Retinopathy v1.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Donnai-Barrow syndrome MIM#222448 Tags
Green Green List (high evidence)	LRP5 Syndromic Retinopathy v1.2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources RetNet Expert Review Green Disease associations Exudative vitreoretinopathy 4 Tags
Green Green List (high evidence)	LRP5 Vitreoretinopathy v2.0	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Exudative vitreoretinopathy 4, MIM# 601813 Tags
Green Green List (high evidence)	LZTFL1 Bardet Biedl syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 17 (MIM#615994) Tags
Green Green List (high evidence)	MAK Retinitis pigmentosa v1.14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa 62, 614181 Tags
Green Green List (high evidence)	MAN2B1 Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Mannosidosis, alpha-, types I and II, MIM# 248500 Tags
Green Green List (high evidence)	MCOLN1 Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Mucolipidosis IV, MIM# 252650 MONDO:0009653 Tags
Green Green List (high evidence)	MECR Optic Atrophy v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Optic atrophy 16, MIM# 620629 Tags
Green Green List (high evidence)	MED12 Syndromic Retinopathy v1.2	3 reviews 3 green	Other	Sources Expert Review Green Literature Disease associations Hardikar syndrome, MIM# 301068 Tags
Green Green List (high evidence)	MERTK Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa 38, MIM# 613862 Tags
Green Green List (high evidence)	MFF Optic Atrophy v2.9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Encephalopathy due to defective mitochondrial and peroxisomal fission 2 Tags
Green Green List (high evidence)	MFN2 Optic Atrophy v2.9	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Charcot-Marie-Tooth disease, axonal, type 2A2A, MIM# 609260 Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 61708, Hereditary motor and sensory neuropathy VIA, MIM# 601152 Tags
Green Green List (high evidence)	MFRP Retinitis pigmentosa v1.14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen Tags
Green Green List (high evidence)	MFSD8 Macular Dystrophy/Stargardt Disease v1.2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Ceroid lipofuscinosis, neuronal, 7, 610951 Macular dystrophy with central cone involvement, 616170 Tags
Green Green List (high evidence)	MFSD8 Syndromic Retinopathy v1.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Ceroid lipofuscinosis, neuronal, 7 OMIM #610951 Tags
Green Green List (high evidence)	MIR204 Retinitis pigmentosa v1.14	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Expert Review Green Literature Disease associations Retinal dystrophy and iris coloboma with or without cataract (MIM#616722) Tags non-coding gene
Green Green List (high evidence)	MKKS Bardet Biedl syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 6 (MIM#605231) Tags
Green Green List (high evidence)	MKS1 Bardet Biedl syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 13, MIM# 615990 MONDO:0014441 Tags
Green Green List (high evidence)	MKS1 Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	MMACHC Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Methylmalonic aciduria and homocystinuria, cblC type MIM#277400 Tags treatable
Green Green List (high evidence)	MORC2 Syndromic Retinopathy v1.2	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090 Tags
Green Green List (high evidence)	MSTO1 Syndromic Retinopathy v1.2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Myopathy, mitochondrial, and ataxia MIM#617675 Tags
Green Green List (high evidence)	MT-ATP6 Retinitis pigmentosa v1.14	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related Tags mtDNA
Green Green List (high evidence)	MT-CO1 Optic Atrophy v2.9	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO1-related Tags mtDNA
Green Green List (high evidence)	MT-CO2 Optic Atrophy v2.9	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related Tags mtDNA
Green Green List (high evidence)	MT-ND1 Optic Atrophy v2.9	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-ND1-related Tags mtDNA
Green Green List (high evidence)	MT-ND3 Optic Atrophy v2.9	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-ND3-related Tags mtDNA
Green Green List (high evidence)	MT-ND4 Optic Atrophy v2.9	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-ND4-related Tags mtDNA
Green Green List (high evidence)	MT-ND5 Optic Atrophy v2.9	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-ND5-related Tags mtDNA
Green Green List (high evidence)	MT-ND6 Optic Atrophy v2.9	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-ND6-related Tags mtDNA
Green Green List (high evidence)	MT-TE Retinitis pigmentosa v1.14	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TE-related Tags mtDNA
Green Green List (high evidence)	MT-TF Retinitis pigmentosa v1.14	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TF-related Tags mtDNA
Green Green List (high evidence)	MT-TG Retinitis pigmentosa v1.14	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TG-related Tags mtDNA
Green Green List (high evidence)	MT-TG Optic Atrophy v2.9	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TG-related Tags mtDNA
Green Green List (high evidence)	MT-TH Optic Atrophy v2.9	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TH-related Tags mtDNA
Green Green List (high evidence)	MT-TH Retinitis pigmentosa v1.14	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TH-related Tags mtDNA
Green Green List (high evidence)	MT-TR Optic Atrophy v2.9	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations mitochondrial disease (MONDO:0044970), MT-TR-related Tags mtDNA
Green Green List (high evidence)	MT-TR Syndromic Retinopathy v1.2	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations mitochondrial disease (MONDO:0044970), MT-TR-related Tags mtDNA
Green Green List (high evidence)	MT-TS2 Syndromic Retinopathy v1.2	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TS2-related Tags mtDNA
Green Green List (high evidence)	MT-TT Optic Atrophy v2.9	2 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TT-related Tags mtDNA
Green Green List (high evidence)	MT-TT Syndromic Retinopathy v1.2	2 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TT-related Tags mtDNA
Green Green List (high evidence)	MT-TW Optic Atrophy v2.9	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TW-related Tags mtDNA
Green Green List (high evidence)	MT-TW Syndromic Retinopathy v1.2	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TW-related Tags mtDNA
Green Green List (high evidence)	MT-TY Syndromic Retinopathy v1.2	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TY-related Tags mtDNA
Green Green List (high evidence)	MTRFR Optic Atrophy v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Combined oxidative phosphorylation deficiency 7 Spastic paraplegia 55, autosomal recessive Tags new gene name
Green Green List (high evidence)	MTTP Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Disease associations Abetalipoproteinemia, MIM# 200100 Tags treatable
Green Green List (high evidence)	MYO7A Usher Syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Usher syndrome, type 1B, 276900 Tags
Green Green List (high evidence)	NBAS Optic Atrophy v2.9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Short stature, optic nerve atrophy, and Pelger-Huet anomaly Tags
Green Green List (high evidence)	NDP Vitreoretinopathy v2.0	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Exudative vitreoretinopathy 2, X-linked, MIM# 305390 Norrie disease, MIM# 310600 Tags
Green Green List (high evidence)	NDUFA12 Optic Atrophy v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations isolated optic atrophy MONDO:0003608 Tags
Green Green List (high evidence)	NDUFS2 Optic Atrophy v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228 Leber hereditary optic neuropathy, autosomal recessive 2, MIM# 620569 Tags
Green Green List (high evidence)	NEUROD1 Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa Retinopathy Permanent neonatal diabetes Tags
Green Green List (high evidence)	NMNAT1 Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Leber congenital amaurosis 9 MIM#608553 Tags
Green Green List (high evidence)	NPHP1 Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	NPHP3 Syndromic Retinopathy v1.2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	NPHP4 Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	NR2E3 Vitreoretinopathy v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Enhanced S-cone syndrome, MIM# 268100 Tags
Green Green List (high evidence)	NR2E3 Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations retinitis pigmentosa 37 MONDO:0012625 Tags
Green Green List (high evidence)	NR2F1 Optic Atrophy v2.9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722 Tags
Green Green List (high evidence)	NRL Retinitis pigmentosa v1.14	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Enhanced S-cone syndrome 2, MIM# 621371 Tags
Green Green List (high evidence)	NYX Congenital Stationary Night Blindness v1.0	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Disease associations Night blindness, congenital stationary (complete), 1A, X-linked, 310500 Tags
Green Green List (high evidence)	OAT Retinitis pigmentosa v1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Gyrate atrophy of choroid and retina Tags
Green Green List (high evidence)	OFD1 Retinitis pigmentosa v1.14	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa 23, 300424 Joubert syndrome 10, 300804 Orofaciodigital syndrome I, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209 Tags
Green Green List (high evidence)	OFD1 Syndromic Retinopathy v1.2	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green RetNet Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Retinitis pigmentosa 23, 300424 Orofaciodigital syndrome I, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209 Joubert syndrome 10, 300804 Tags
Green Green List (high evidence)	OPA1 Optic Atrophy v2.9	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations OPA1-related optic atrophy with or without extraocular features, MONDO:0800181 Tags
Green Green List (high evidence)	OPA3 Syndromic Retinopathy v1.2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green RetNet Expert Review Green Victorian Clinical Genetics Services Disease associations Autosomal Dominant Optic Atrophy Tags
Green Green List (high evidence)	OPA3 Optic Atrophy v2.9	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR Optic atrophy 3 with cataract (MIM#165300), AD Tags
Green Green List (high evidence)	OPN1LW Cone-rod Dystrophy v1.0	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Disease associations Blue cone monochromacy MIM#303700 Colourblindness, protan MIM#303900 Tags SV/CNV
Green Green List (high evidence)	OPN1MW Cone-rod Dystrophy v1.0	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Disease associations Blue cone monochromacy MIM#303700 Colourblindness, deutan MIM#303800 Tags SV/CNV
Green Green List (high evidence)	OPN1SW Cone-rod Dystrophy v1.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Colorblindness, tritan MIM#190900 Tags
Green Green List (high evidence)	OTX2 Macular Dystrophy/Stargardt Disease v1.2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Disease associations autosomal-dominant pattern dystrophy of the retinal pigment epithelium early onset retinal dystrophy Microphthalmia, syndromic 5, 610125 Tags
Green Green List (high evidence)	P3H2 Vitreoretinopathy v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Myopia, high, with cataract and vitreoretinal degeneration MIM#614292 Tags
Green Green List (high evidence)	PANK2 Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Disease associations pantothenate kinase-associated neurodegeneration MONDO:0009319 Tags
Green Green List (high evidence)	PAX2 Syndromic Retinopathy v1.2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green RetNet Disease associations Papillorenal syndrome, MIM# 120330 Tags
Green Green List (high evidence)	PAX6 Foveal Hypoplasia v1.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Foveal hypoplasia 1 MIM#136520 Tags
Green Green List (high evidence)	PCARE Retinitis pigmentosa v1.14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa 54 Tags new gene name
Green Green List (high evidence)	PCDH15 Usher Syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Disease associations Usher syndrome Type 1F Usher syndrome, type 1D/F digenic Tags
Green Green List (high evidence)	PCYT1A Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Disease associations Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 Tags
Green Green List (high evidence)	PDE6A Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa 43, 613810 Tags
Green Green List (high evidence)	PDE6B Retinitis pigmentosa v1.14	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Disease associations inherited retinal dystrophy MONDO:0019118 Tags
Green Green List (high evidence)	PDE6B Congenital Stationary Night Blindness v1.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Night blindness, congenital stationary, autosomal dominant 2, 163500 Retinitis pigmentosa Tags
Green Green List (high evidence)	PDE6C Achromatopsia v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Achromatopsia-5 Cone dystrophy 4, MIM# 613093 Tags
Green Green List (high evidence)	PDE6C Cone-rod Dystrophy v1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Cone dystrophy 4 MIM#613093 Tags
Green Green List (high evidence)	PDE6H Achromatopsia v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Achromatopsia 6 MIM#610024 Tags
Green Green List (high evidence)	PDXK Optic Atrophy v2.9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Axonal polyneuropathy optic atrophy Tags
Green Green List (high evidence)	PEX1 Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources RetNet Expert Review Green Disease associations Heimler syndrome 1, 234580 Tags
Green Green List (high evidence)	PEX1 Usher Syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Heimler syndrome 1, 234580 Tags
Green Green List (high evidence)	PEX2 Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources RetNet Expert Review Green Tags
Green Green List (high evidence)	PEX26 Usher Syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Heimler syndrome Tags
Green Green List (high evidence)	PEX6 Usher Syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Heimler syndrome 2, 616617 Tags
Green Green List (high evidence)	PEX7 Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Expert Review Green Victorian Clinical Genetics Services Disease associations Refsum disease Tags
Green Green List (high evidence)	PHYH Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Expert Review Green Victorian Clinical Genetics Services Disease associations Refsum disease Tags
Green Green List (high evidence)	PLA2G5 Retinitis pigmentosa v1.14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations [Fleck retina, familial benign], MIM# 228980 Tags
Green Green List (high evidence)	PLK4 Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Disease associations Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171 Tags
Green Green List (high evidence)	PLOD3 Stickler Syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Lysyl hydroxylase 3 deficiency, MIM#612394 Stickler-like phenotype with high myopia, midface hypoplasia, microretrognathia Tags
Green Green List (high evidence)	PNPLA6 Syndromic Retinopathy v1.2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list RetNet Expert list Disease associations Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome MONDO:0100155 Tags
Green Green List (high evidence)	POC1B Syndromic Retinopathy v1.2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list RetNet Expert Review Green Disease associations Cone-rod dystrophy 20, 615973 Tags
Green Green List (high evidence)	POC1B Cone-rod Dystrophy v1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Cone-rod dystrophy 20, 615973 Tags
Green Green List (high evidence)	POC5 Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Ciliopathy, MONDO:0005308, POC5-related Tags
Green Green List (high evidence)	POLA2 Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Telomere biology syndrome MONDO:0100137 Tags
Green Green List (high evidence)	POMGNT1 Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa 76, MIM#617123 Tags
Green Green List (high evidence)	PPP2R3C Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM # 618419 Tags
Green Green List (high evidence)	PPT1 Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Ceroid lipofuscinosis, neuronal, 1, MIM#256730 Tags
Green Green List (high evidence)	PRCD Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa 36, MIM# 610599 Tags
Green Green List (high evidence)	PRDM13 Macular Dystrophy/Stargardt Disease v1.2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Disease associations Macular dystrophy, North Carolina type, MIM#136550 Retinal dystrophy Chorioretinal atrophy, progressive bifocal, MIM# 600790 Tags 5'UTR SV/CNV
Green Green List (high evidence)	PROM1 Retinitis pigmentosa v1.14	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Stargardt disease 4, 603786 Macular dystrophy, retinal, 2, 608051 Retinitis pigmentosa 41, 612095 Cone-rod dystrophy 12, 612657 Tags
Green Green List (high evidence)	PROM1 Macular Dystrophy/Stargardt Disease v1.2	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Retinitis pigmentosa 41, 612095 Cone-rod dystrophy 12, 612657 Stargardt disease 4, 603786 Macular dystrophy, retinal, 2, 608051 Tags
Green Green List (high evidence)	PROM1 Cone-rod Dystrophy v1.0	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Cone-rod dystrophy 12, 612657 Tags
Green Green List (high evidence)	PRPF3 Retinitis pigmentosa v1.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Disease associations Retinitis pigmentosa 18, MIM# 601414 Tags
Green Green List (high evidence)	PRPF31 Retinitis pigmentosa v1.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Green Disease associations Retinitis pigmentosa 11, 600138 Tags SV/CNV
Green Green List (high evidence)	PRPF4 Retinitis pigmentosa v1.14	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Disease associations Retinitis pigmentosa 70, MIM# 615922 Tags
Green Green List (high evidence)	PRPF6 Retinitis pigmentosa v1.14	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa 60, MIM# 613983 Tags
Green Green List (high evidence)	PRPF8 Retinitis pigmentosa v1.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Disease associations Retinitis pigmentosa 13, MIM#600059 PRPF8-related retinopathy MONDO:0700234 Tags
Green Green List (high evidence)	PRPH2 Retinitis pigmentosa v1.14	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Disease associations PRPH2-related retinopathy MONDO:1040055 Tags
Green Green List (high evidence)	PRPH2 Macular Dystrophy/Stargardt Disease v1.2	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations PRPH2-related retinopathy MONDO:1040055 Tags
Green Green List (high evidence)	PRPH2 Cone-rod Dystrophy v1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Disease associations Choroidal dystrophy, central areolar 2 MIM#613105 Tags
Green Green List (high evidence)	PRPS1 Syndromic Retinopathy v1.2	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 Expert Review Expert Review Green RetNet Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PTCD3 Optic Atrophy v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Combined oxidative phosphorylation deficiency-51, MIM#619057 Intellectual disability optic atrophy Leigh-like syndrome Tags
Green Green List (high evidence)	RAB28 Cone-rod Dystrophy v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Cone-rod dystrophy 18, 615374 Tags
Green Green List (high evidence)	RAX2 Cone-rod Dystrophy v1.0	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Cone-rod dystrophy 11, MIM# 610381 Tags
Green Green List (high evidence)	RAX2 Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Retinitis pigmentosa-95 (RP95), MIM#620102 Tags
Green Green List (high evidence)	RBP3 Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa 66, 615233 Tags
Green Green List (high evidence)	RBP4 Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Retinal dystrophy, iris coloboma, and comedogenic acne syndrome MIM#615147 Tags
Green Green List (high evidence)	RCBTB1 Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Retinal dystrophy with or without extraocular anomalies MIM#617175 Tags
Green Green List (high evidence)	RD3 Retinitis pigmentosa v1.14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Leber congenital amaurosis 12, 610612 Tags
Green Green List (high evidence)	RDH11 Syndromic Retinopathy v1.2	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Disease associations Retinal dystrophy, juvenile cataracts, and short stature syndrome, MIM# 616108 Tags
Green Green List (high evidence)	RDH12 Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Leber congenital amaurosis 13, 612712 RDH12-related recessive retinopathy MONDO:0800099 Tags
Green Green List (high evidence)	RDH12 Macular Dystrophy/Stargardt Disease v1.2	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Leber congenital amaurosis 13, 612712 Tags
Green Green List (high evidence)	RDH5 Congenital Stationary Night Blindness v1.0	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Fundus albipunctatus (MIM#136880) Congenital Stationary Night Blindness Tags
Green Green List (high evidence)	REEP6 Retinitis pigmentosa v1.14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa 77 Tags
Green Green List (high evidence)	RGS9 Achromatopsia v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Bradyopsia MIM#608415 Tags
Green Green List (high evidence)	RGS9BP Achromatopsia v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Bradyopsia MIM#608415 Tags
Green Green List (high evidence)	RHO Retinitis pigmentosa v1.14	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa 4, autosomal dominant or recessive, 613731 inherited retinal dystrophy MONDO:0019118 Tags
Green Green List (high evidence)	RHO Congenital Stationary Night Blindness v1.0	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis punctata albescens Retinitis pigmentosa Night blindness, congenital stationary autosomal dominant 1 Tags
Green Green List (high evidence)	RIMS2 Congenital Stationary Night Blindness v1.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations nystagmus retinal dysfunction autism night blindness Cone-rod synaptic disorder syndrome, congenital nonprogressive , MIM#618970 Tags
Green Green List (high evidence)	RIMS2 Syndromic Retinopathy v1.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Literature Disease associations Cone-rod synaptic disorder syndrome, congenital nonprogressive, MIM# 618970 Tags
Green Green List (high evidence)	RLBP1 Retinitis pigmentosa v1.14	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis punctata albescens Newfoundland rod - cone dystrophy Fundus albipunctatus, 136880 Fundus albipunctatus Bothnia retinal dystrophy Tags
Green Green List (high evidence)	RLBP1 Macular Dystrophy/Stargardt Disease v1.2	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Fundus albipunctatus Newfoundland rod - cone dystrophy Fundus albipunctatus, 136880 Bothnia retinal dystrophy Retinitis punctata albescens Tags
Green Green List (high evidence)	RNU4-2 Retinitis pigmentosa v1.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Retinitis pigmentosa, MONDO:0019200, RNU4-2 related Tags non-coding gene
Green Green List (high evidence)	RNU4ATAC Syndromic Retinopathy v1.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Roifman syndrome, MIM# 616651 Lowry-Wood syndrome, MIM# 226960 Tags non-coding gene
Green Green List (high evidence)	RNU6-1 Retinitis pigmentosa v1.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Literature Disease associations retinitis pigmentosa MONDO:0019200, RNU6-1-related Tags non-coding gene
Green Green List (high evidence)	RNU6-2 Retinitis pigmentosa v1.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Literature Disease associations Retinitis pigmentosa MONDO:0019200, RNU6-2-related Tags non-coding gene
Green Green List (high evidence)	RNU6-8 Retinitis pigmentosa v1.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Literature Disease associations Retinitis pigmentosa MONDO:0019200, RNU6-8-related Tags non-coding gene
Green Green List (high evidence)	RNU6-9 Retinitis pigmentosa v1.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Literature Disease associations retinitis pigmentosa MONDO:0019200, RNU6-9-related Tags non-coding gene
Green Green List (high evidence)	ROM1 Retinitis pigmentosa v1.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Disease associations Retinitis pigmentosa 7, digenic, 608133 Tags
Green Green List (high evidence)	RP1 Retinitis pigmentosa v1.14	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa 1, 180100 Tags
Green Green List (high evidence)	RP1L1 Macular Dystrophy/Stargardt Disease v1.2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Occult macular dystrophy, 613587 Tags
Green Green List (high evidence)	RP1L1 Retinitis pigmentosa v1.14	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations retinitis pigmentosa Occult macular dystrophy, 613587 Tags
Green Green List (high evidence)	RP2 Retinitis pigmentosa v1.14	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis Pigmentosa, X-linked Retinitis pigmentosa 2, 312600 Tags
Green Green List (high evidence)	RPE65 Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa 20 Leber congenital amaurosis 2, 204100 Tags
Green Green List (high evidence)	RPE65 Congenital Stationary Night Blindness v1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa 20 Leber congenital amaurosis 2, 204100 Leber Congenital Amaurosis Leber congenital amaurosis 2 Tags
Green Green List (high evidence)	RPGR Macular Dystrophy/Stargardt Disease v1.2	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Royal Melbourne Hospital Expert Review Green Disease associations 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 Tags
Green Green List (high evidence)	RPGR Cone-rod Dystrophy v1.0	0 reviews	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 Royal Melbourne Hospital Disease associations Cone-rod dystrophy, X-linked, 1, 304020 Tags
Green Green List (high evidence)	RPGR Retinitis pigmentosa v1.14	0 reviews	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 Royal Melbourne Hospital Disease associations Cone-rod dystrophy, X-linked, 1, 304020 Macular degeneration, X-linked atrophic, 300834 Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 Retinitis pigmentosa 3, 300029 Tags
Green Green List (high evidence)	RPGRIP1 Retinitis pigmentosa v1.14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Leber congenital amaurosis 6, 613826 Cone-rod dystrophy 13, 608194 Tags
Green Green List (high evidence)	RPGRIP1 Macular Dystrophy/Stargardt Disease v1.2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Leber congenital amaurosis 6, 613826 Cone-rod dystrophy 13, 608194 Tags
Green Green List (high evidence)	RPGRIP1 Cone-rod Dystrophy v1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Cone-rod dystrophy 13, 608194 Tags
Green Green List (high evidence)	RPGRIP1L Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Expert Review Green Victorian Clinical Genetics Services Disease associations Meckel syndrome 5 Joubert syndrome 7 COACH syndrome Tags
Green Green List (high evidence)	RS1 Vitreoretinopathy v2.0	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Other Disease associations Retinoschisis MONDO:0004579 Tags
Green Green List (high evidence)	RS1 Macular Dystrophy/Stargardt Disease v1.2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinoschisis, MIM#312700 Developmental macular and foveal dystrophy (males with foveal schisis) Tags
Green Green List (high evidence)	RTN4IP1 Optic Atrophy v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Optic atrophy 10 with or without ataxia, mental retardation, and seizures Tags
Green Green List (high evidence)	SAG Congenital Stationary Night Blindness v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Oguchi disease-1, MIM# 258100 Tags
Green Green List (high evidence)	SAMD7 Macular Dystrophy/Stargardt Disease v1.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Macular dystrophy with or without cone dysfunction, MIM# 620762 Tags
Green Green List (high evidence)	SAXO6 Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Retinitis pigmentosa 108, MIM# 621637 Tags
Green Green List (high evidence)	SCAPER Syndromic Retinopathy v1.2	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Green Expert list Expert Review Expert Review Green Expert list Expert list Expert Review Green Literature Disease associations Intellectual developmental disorder and retinitis pigmentosa MIM#618195 Tags
Green Green List (high evidence)	SCAPER Bardet Biedl syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder and retinitis pigmentosa, OMIM #618195 Bardet-Biedl syndrome Tags
Green Green List (high evidence)	SCLT1 Syndromic Retinopathy v1.2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Expert list Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Bardet Biedl syndrome Senior-Loken syndrome Tags
Green Green List (high evidence)	SDCCAG8 Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Disease associations Bardet-Biedl syndrome 16, MIM# 615993 MONDO:0014444 Senior-Loken syndrome 7, MIM# 613615 MONDO:0013326 Tags
Green Green List (high evidence)	SDCCAG8 Bardet Biedl syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 16, MIM# 615993 MONDO:0014444 Tags
Green Green List (high evidence)	SLC24A1 Congenital Stationary Night Blindness v1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 Tags
Green Green List (high evidence)	SLC25A46 Syndromic Retinopathy v1.2	1 review 1 green	Unknown	Sources Expert Review Green RetNet Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SLC25A46 Optic Atrophy v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Neuropathy, hereditary motor and sensory, type VIB (MIM#616505) Pontocerebellar hypoplasia, type 1E, MIM# 619303 Tags
Green Green List (high evidence)	SLC37A3 Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Retinitis pigmentosa, MONDO:0019200, SLC37A3-related Tags
Green Green List (high evidence)	SLC38A8 Foveal Hypoplasia v1.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations 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 Tags
Green Green List (high evidence)	SLC44A1 Optic Atrophy v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Childhood onset degeneration progressive ataxia tremor cognitive decline dysphagia optic atrophy dysarthria Tags
Green Green List (high evidence)	SLC52A2 Optic Atrophy v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Brown-Vialetto-Van Laere syndrome 2 Tags
Green Green List (high evidence)	SLC66A1 Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Retinitis pigmentosa, MONDO:0019200, PQLC2-related Tags new gene name
Green Green List (high evidence)	SLC6A6 Cone-rod Dystrophy v1.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Hypotaurinemic retinal degeneration and cardiomyopathy MMI#145350 Tags
Green Green List (high evidence)	SNRNP200 Retinitis pigmentosa v1.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Disease associations Retinitis pigmentosa 33, MIM#610359 SNRNP200-related dominant retinopathy MONDO:0800098 Tags
Green Green List (high evidence)	SPATA7 Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Leber Congenital Amaurosis Retinitis pigmentosa, juvenile, autosomal recessive, 604232 Leber congenital amaurosis 3 Tags
Green Green List (high evidence)	SRD5A3 Syndromic Retinopathy v1.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Expert list Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type Iq MIM#612379 Tags
Green Green List (high evidence)	SSBP1 Optic Atrophy v2.9	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Optic atrophy with or without extraocular phenotypes Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510 Tags
Green Green List (high evidence)	STN1 Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341 Tags
Green Green List (high evidence)	STX3 Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Retinal dystrophy and microvillus inclusion disease, MIM#619446 Tags
Green Green List (high evidence)	SUPV3L1 Optic Atrophy v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Mitochondrial disease, MONDO:0044970, SUPV3L1-related Tags
Green Green List (high evidence)	TBC1D32 Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Retinitis pigmentosa 100, MIM# 621280 Tags
Green Green List (high evidence)	TIMM8A Syndromic Retinopathy v1.2	2 reviews 1 green	Unknown	Sources Expert Review Green RetNet Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	TIMP3 Macular Dystrophy/Stargardt Disease v1.2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Sorsby fundus dystrophy, MIM# 136900 Tags
Green Green List (high evidence)	TINF2 Syndromic Retinopathy v1.2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Revesz syndrome, 268130 Tags
Green Green List (high evidence)	TLCD3B Cone-rod Dystrophy v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Cone-rod dystrophy 22, MIM# 619531 Maculopathy Tags new gene name
Green Green List (high evidence)	TLCD3B Retinitis pigmentosa v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cone-rod dystrophy 22, MIM# 619531 Maculopathy Tags new gene name
Green Green List (high evidence)	TMEM126A Optic Atrophy v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Optic atrophy 7, MIM# 612989 MONDO:0013069 Tags
Green Green List (high evidence)	TMEM216 Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Disease associations Joubert syndrome 2, MIM# 608091 Tags
Green Green List (high evidence)	TMEM216 Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Retinitis pigmentosa, MONDO:0019200, TMEM216-related Tags UTR
Green Green List (high evidence)	TMEM218 Syndromic Retinopathy v1.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Joubert syndrome 39, MIM#619562 retinal dystrophy polycystic kidneys occipital encephalocele Tags
Green Green List (high evidence)	TMEM231 Syndromic Retinopathy v1.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Joubert syndrome 20 MIM#614970 Tags
Green Green List (high evidence)	TMEM237 Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	TOMM7 Syndromic Retinopathy v1.2	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Garg-Mishra progeroid syndrome, MIM# 620601 Tags
Green Green List (high evidence)	TOPORS Retinitis pigmentosa v1.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Disease associations Retinitis pigmentosa 31, MIM#609923 TOPORS-related retinopathy MONDO:0700233 Tags
Green Green List (high evidence)	TPP1 Syndromic Retinopathy v1.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Ceroid lipofuscinosis, neuronal, 2, OMIM #204500 Tags
Green Green List (high evidence)	TRAF3IP1 Syndromic Retinopathy v1.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Senior-Loken syndrome 9, MIM# 616629 MONDO:0014712 Tags
Green Green List (high evidence)	TREX1 Syndromic Retinopathy v1.2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green RetNet Disease associations Vasculopathy, retinal, with cerebral leukodystrophy, MIM# 192315 Tags
Green Green List (high evidence)	TRNT1 Syndromic Retinopathy v1.2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Disease associations Retinitis pigmentosa and erythrocytic microcytosis, MIM# 616959 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084 Tags
Green Green List (high evidence)	TRNT1 Retinitis pigmentosa v1.14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa and erythrocytic microcytosis Tags
Green Green List (high evidence)	TRPM1 Congenital Stationary Night Blindness v1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 Tags
Green Green List (high evidence)	TSPAN12 Vitreoretinopathy v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Exudative vitreoretinopathy 5, MIM# 613310 Tags
Green Green List (high evidence)	TTC8 Bardet Biedl syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 8, MIM# 615985 Tags
Green Green List (high evidence)	TTC8 Retinitis pigmentosa v1.14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa 51, 613464 Bardet-Biedl syndrome 8, 209900 Tags
Green Green List (high evidence)	TTLL5 Cone-rod Dystrophy v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Cone-rod dystrophy 19,615860 Tags
Green Green List (high evidence)	TTPA Syndromic Retinopathy v1.2	2 reviews 2 green	Unknown	Sources Expert Review Green NHS GMS Expert list RetNet Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	TUBB4B Syndromic Retinopathy v1.2	4 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Leber congenital amaurosis with early-onset deafness MIM#617879 Primary ciliary dyskinesia, MONDO:0016575, TUBB4B-related Tags
Green Green List (high evidence)	TUBGCP4 Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Disease associations Microcephaly and chorioretinopathy, autosomal recessive, 3, MIM# 616335 Tags
Green Green List (high evidence)	TUBGCP6 Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Disease associations Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM# 251270 Tags
Green Green List (high evidence)	TULP1 Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Leber congenital amaurosis 15, 613843 Retinitis pigmentosa 14, 600132 Tags
Green Green List (high evidence)	UBAP1L Cone-rod Dystrophy v1.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Retinal dystrophy, Zeitz-Han type, MIM# 621558 Tags
Green Green List (high evidence)	UCHL1 Optic Atrophy v2.9	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Spastic paraplegia 79, autosomal recessive (MIM#615491) Tags
Green Green List (high evidence)	UFM1 Optic Atrophy v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Leukodystrophy, hypomyelinating, 14, MIM# 617899 Tags
Green Green List (high evidence)	USH1C Usher Syndrome v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Disease associations Usher syndrome, type 1C, 276904 Tags
Green Green List (high evidence)	USH1G Usher Syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Disease associations Usher syndrome, type 1G, 606943 Tags
Green Green List (high evidence)	USH2A Usher Syndrome v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Disease associations Usher syndrome, type 2A, 276901 Retinitis pigmentosa 39, 613809 Tags
Green Green List (high evidence)	USH2A Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa 39, 613809 Usher syndrome, type 2A, 276901 Tags
Green Green List (high evidence)	USP45 Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Lebers congenital amaurosis Tags
Green Green List (high evidence)	VCAN Syndromic Retinopathy v1.2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green RetNet Expert Review Green Victorian Clinical Genetics Services Disease associations Wagner Syndrome Tags
Green Green List (high evidence)	VCAN Vitreoretinopathy v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Wagner syndrome 1, MIM# 143200 Tags SV/CNV
Green Green List (high evidence)	VPS13B Syndromic Retinopathy v1.2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Expert Review Victorian Clinical Genetics Services Disease associations Cohen syndrome MIM#216550 Tags
Green Green List (high evidence)	VWA8 Retinitis pigmentosa v1.14	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Disease associations Retinitis pigmentosa 97, MIM#620422 Tags
Green Green List (high evidence)	WDPCP Syndromic Retinopathy v1.2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Expert Review Green Expert list Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	WDR19 Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	WFS1 Optic Atrophy v2.9	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Wolfram syndrome 1, autosomal recessive, MIM# 222300 Wolfram-like syndrome, autosomal dominant, MIM#614296 Tags
Green Green List (high evidence)	WFS1 Syndromic Retinopathy v1.2	2 reviews 2 green	Unknown	Sources RetNet Expert Review Green Tags
Green Green List (high evidence)	WHRN Usher Syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Usher syndrome, type 2D, 611383 Tags
Green Green List (high evidence)	YPEL2 regulatory region YPEL2 regulatory region Region Retinitis pigmentosa v1.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Expert Review Green Literature Disease associations Retinitis pigmentosa 17, MIM#600852 Tags regulatory region
Green Green List (high evidence)	ZFYVE26 Syndromic Retinopathy v1.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Royal Melbourne Hospital Disease associations Spastic paraplegia 15, autosomal recessive MIM#270700 Tags
Green Green List (high evidence)	ZNF408 Retinitis pigmentosa v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Retinitis pigmentosa 72, MIM# 616469 Tags
Green Green List (high evidence)	ZNF408 Vitreoretinopathy v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Exudative vitreoretinopathy 6, MIM# 616468 Tags
Green Green List (high evidence)	ZNHIT3 Optic Atrophy v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations PEHO syndrome, MIM# 260565 Tags founder
Amber Amber List (moderate evidence)	ACTG1 Retinitis pigmentosa v1.14	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Literature Disease associations Retinitis pigmentosa MONDO:0019200, ACTG1-related Tags
Amber Amber List (moderate evidence)	ADIPOR1 Retinitis pigmentosa v1.14	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations syndromic retinitis pigmentosa non-syndromic autosomal dominant retinitis pigmentosa Tags
Amber Amber List (moderate evidence)	ADIPOR1 Syndromic Retinopathy v1.2	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber RetNet Royal Melbourne Hospital Disease associations syndromic retinitis pigmentosa non-syndromic autosomal dominant retinitis pigmentosa Tags
Amber Amber List (moderate evidence)	AGPAT3 Syndromic Retinopathy v1.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder (MONDO#0700092), AGPAT3-related Tags
Amber Amber List (moderate evidence)	AHR Retinitis pigmentosa v1.14	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations ?Retinitis pigmentosa 85 Tags
Amber Amber List (moderate evidence)	ARL3 Retinitis pigmentosa v1.14	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Amber Expert Review Amber Royal Melbourne Hospital Disease associations Retinitis pigmentosa 83 Joubert syndrome 35 Tags
Amber Amber List (moderate evidence)	ARL6 Retinitis pigmentosa v1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Retinitis pigmentosa 55, 613575 Bardet-Biedl syndrome 3, 209900 Tags
Amber Amber List (moderate evidence)	ARMC9 Syndromic Retinopathy v1.2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Joubert syndrome 30 MIM#617622 Tags
Amber Amber List (moderate evidence)	AUH Optic Atrophy v2.9	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations 3-methylglutaconic aciduria, type I, MIM# 250950 Tags
Amber Amber List (moderate evidence)	CCDC88A Optic Atrophy v2.9	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations PEHO syndrome-like, MIM#617507 Tags
Amber Amber List (moderate evidence)	CEP162 Retinitis pigmentosa v1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Retinitis pigmentosa MONDO:0019200, CEP162-related Tags
Amber Amber List (moderate evidence)	CFAP418 Bardet Biedl syndrome v2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Bardet-Biedl syndrome 21, MIM#617406 Tags
Amber Amber List (moderate evidence)	CLCC1 Retinitis pigmentosa v1.14	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Retinitis pigmentosa 32, MIM# 609913 Tags
Amber Amber List (moderate evidence)	CLUAP1 Retinitis pigmentosa v1.14	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Disease associations Leber congenital amaurosis, MONDO:0018998, CLUAP1-related Ciliopathy, MONDO:0005308, CLUAP1-related Retinitis pigmentosa (MONDO:0019200), CLUAP1-related Tags
Amber Amber List (moderate evidence)	CLUAP1 Cone-rod Dystrophy v1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Expert Review Amber Literature Disease associations Leber congenital amaurosis, MONDO:0018998, CLUAP1-related Ciliopathy, MONDO:0005308, CLUAP1-related Tags
Amber Amber List (moderate evidence)	COL9A3 Vitreoretinopathy v2.0	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Peripheral vitreoretinal degeneration and retinal detachment, AD Tags
Amber Amber List (moderate evidence)	CRB2 Retinitis pigmentosa v1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Disease associations Retinitis pigmentosa Tags
Amber Amber List (moderate evidence)	CREB3 Retinitis pigmentosa v1.14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Retinal degeneration, MONDO:0004580, CREB3-related Tags founder
Amber Amber List (moderate evidence)	CREB3 Cone-rod Dystrophy v1.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Retinal degeneration, MONDO:0004580, CREB3-related Tags founder
Amber Amber List (moderate evidence)	DHX38 Retinitis pigmentosa v1.14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Retinitis pigmentosa 84, MIM#618220 Tags
Amber Amber List (moderate evidence)	DNAJC17 Retinitis pigmentosa v1.14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Disease associations Inborn error of immunity, MONDO:0003778, DNAJC17-related Tags
Amber Amber List (moderate evidence)	EGFLAM Congenital Stationary Night Blindness v1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Expert Review Amber Literature Disease associations Congenital stationary night blindness MONDO:0016293, EGFLAM-related Tags
Amber Amber List (moderate evidence)	EMC1 Retinitis pigmentosa v1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Amber Disease associations ?Retinitis pigmentosa Cerebellar atrophy, visual impairment, and psychomotor retardation Tags
Amber Amber List (moderate evidence)	EXOSC2 Syndromic Retinopathy v1.2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list RetNet Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, MIM# 617763 Tags
Amber Amber List (moderate evidence)	GDF6 Retinitis pigmentosa v1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Leber congenital amaurosis 17 MIM#615360 Tags
Amber Amber List (moderate evidence)	GUCA1B Retinitis pigmentosa v1.14	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Amber Expert Review Amber Disease associations Retinitis pigmentosa 48, MIM#613827 Tags founder
Amber Amber List (moderate evidence)	GUCA1B Macular Dystrophy/Stargardt Disease v1.2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Retinitis pigmentosa 48, MIM#613827 Tags founder
Amber Amber List (moderate evidence)	HACE1 Syndromic Retinopathy v1.2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Expert list Victorian Clinical Genetics Services Disease associations Spastic paraplegia and psychomotor retardation with or without seizures MIM#616756 Tags
Amber Amber List (moderate evidence)	HBS1L Syndromic Retinopathy v1.2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Retinal disorder MONDO:0005283 Tags
Amber Amber List (moderate evidence)	IFT57 Bardet Biedl syndrome v2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Bardet-Bield syndrome ciliopathy - MONDO:0005308 Tags
Amber Amber List (moderate evidence)	IFT57 Cone-rod Dystrophy v1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Bardet-Bield syndrome ciliopathy - MONDO:0005308 Tags
Amber Amber List (moderate evidence)	IFT81 Syndromic Retinopathy v1.2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber RetNet Disease associations Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895 Tags
Amber Amber List (moderate evidence)	IMPG1 Retinitis pigmentosa v1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Retinitis pigmentosa, MONDO:0019200 Retinitis pigmentosa 91, MIM# 153870 Tags
Amber Amber List (moderate evidence)	INVS Syndromic Retinopathy v1.2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber RetNet Disease associations Nephronophthisis 2, infantile, MIM#602088 Tags
Amber Amber List (moderate evidence)	IRX5 Cone-rod Dystrophy v1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations cone dystrophy, MONDO:0000455 Tags SV/CNV
Amber Amber List (moderate evidence)	IRX6 Cone-rod Dystrophy v1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations cone dystrophy, MONDO:0000455 Tags SV/CNV
Amber Amber List (moderate evidence)	JAG1 Vitreoretinopathy v2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Familial exudative vitreoretinopathy Tags
Amber Amber List (moderate evidence)	KATNA1 Macular Dystrophy/Stargardt Disease v1.2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Literature Disease associations Macular dystrophy, non-syndromic MONDO:0020242 Tags preprint
Amber Amber List (moderate evidence)	KCNJ13 Vitreoretinopathy v2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Snowflake vitreoretinal degeneration, MIM# 193230 Tags
Amber Amber List (moderate evidence)	LRP6 Vitreoretinopathy v2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Exudative vitreoretinopathy 8, MIM# 621268 Tags
Amber Amber List (moderate evidence)	LRRC32 Syndromic Retinopathy v1.2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074 Tags
Amber Amber List (moderate evidence)	MCAT Optic Atrophy v2.9	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Optic atrophy 15, MIM# 620583 Tags
Amber Amber List (moderate evidence)	MFN2 Syndromic Retinopathy v1.2	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber RetNet Disease associations Charcot-Marie-Tooth disease, axonal, type 2A2A, MIM# 609260 Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087 Tags
Amber Amber List (moderate evidence)	MPDZ Syndromic Retinopathy v1.2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations hydrocephalus, congenital, 2, with or without brain or eye anomalies MIM:615219 Tags
Amber Amber List (moderate evidence)	MT-ND4L Optic Atrophy v2.9	1 review	MITOCHONDRIAL	Sources Expert Review Amber Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-ND4L-related Tags mtDNA
Amber Amber List (moderate evidence)	MT-TC Retinitis pigmentosa v1.14	1 review	MITOCHONDRIAL	Sources Expert Review Amber Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TC-related Tags mtDNA
Amber Amber List (moderate evidence)	MT-TQ Optic Atrophy v2.9	1 review	MITOCHONDRIAL	Sources Expert Review Amber Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TQ-related Tags mtDNA
Amber Amber List (moderate evidence)	MVK Retinitis pigmentosa v1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Mevalonic aciduria Hyper-IgD syndrome Tags
Amber Amber List (moderate evidence)	NDUFS1 Optic Atrophy v2.9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Mitochondrial complex I deficiency, nuclear type 5, 618226 Tags
Amber Amber List (moderate evidence)	NDUFS3 Optic Atrophy v2.9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230 Tags
Amber Amber List (moderate evidence)	NEK2 Retinitis pigmentosa v1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Amber Disease associations ?Retinitis pigmentosa 67, 615565 Tags
Amber Amber List (moderate evidence)	PDE6G Retinitis pigmentosa v1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Retinitis pigmentosa 57, MIM#613582 Tags
Amber Amber List (moderate evidence)	PDSS1 Optic Atrophy v2.9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Coenzyme Q10 deficiency, primary, 2, MIM# 614651 Tags
Amber Amber List (moderate evidence)	PDZD7 Usher Syndrome v2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Disease associations Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472 Tags
Amber Amber List (moderate evidence)	PEX26 Syndromic Retinopathy v1.2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872 Peroxisome biogenesis disorder 7B MIM#614873 Tags
Amber Amber List (moderate evidence)	PLAA Optic Atrophy v2.9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (MIM#617527) Tags
Amber Amber List (moderate evidence)	POC5 Syndromic Retinopathy v1.2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber RetNet Disease associations retinitis pigmentosa short stature microcephaly recurrent glomerulonephritis Tags
Amber Amber List (moderate evidence)	POLG Optic Atrophy v2.9	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700 Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459 Progressive external ophthalmoplegia, autosomal recessive 1 258450 Tags
Amber Amber List (moderate evidence)	PPIB Optic Atrophy v2.9	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Optic atrophy (MONDO:0003608), PPIB-related Tags founder
Amber Amber List (moderate evidence)	RBP3 Macular Dystrophy/Stargardt Disease v1.2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Retinitis pigmentosa 66, 615233 Tags
Amber Amber List (moderate evidence)	SAG Retinitis pigmentosa v1.14	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Retinitis pigmentosa 47, autosomal recessive MIM# 613758 Retinitis pigmentosa 96, autosomal dominant, MIM# 620228 Tags founder
Amber Amber List (moderate evidence)	SEMA4A Retinitis pigmentosa v1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Cone-rod dystrophy 10, 610283 Retinitis pigmentosa 35, 610282 Tags
Amber Amber List (moderate evidence)	SEMA4A Cone-rod Dystrophy v1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Cone-rod dystrophy 10, 610283 Tags
Amber Amber List (moderate evidence)	SLC29A3 Stickler Syndrome v2.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert list Disease associations Histiocytosis-lymphadenopathy plus syndrome - MIM#602782 Tags
Amber Amber List (moderate evidence)	SLC4A7 Retinitis pigmentosa v1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Retinitis pigmentosa, MONDO:0019200, SLC4A7-related Tags
Amber Amber List (moderate evidence)	SNF8 Optic Atrophy v2.9	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder plus optic atrophy, MIM# 620784 Tags
Amber Amber List (moderate evidence)	TBCD Optic Atrophy v2.9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Victorian Clinical Genetics Services Disease associations Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193 Tags
Amber Amber List (moderate evidence)	TEAD1 Macular Dystrophy/Stargardt Disease v1.2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Disease associations Sveinsson chorioretinal atrophy MIM#108985 Tags
Amber Amber List (moderate evidence)	THRB Macular Dystrophy/Stargardt Disease v1.2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Macular dystrophy, MONDO:0031166, THRB-related Tags
Amber Amber List (moderate evidence)	TIMM50 Optic Atrophy v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations 3-methylglutaconic aciduria, type IX (MIM#617698) Tags
Amber Amber List (moderate evidence)	TIMM8A Optic Atrophy v2.9	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Mohr-Tranebjaerg syndrome (MIM#304700) Tags
Amber Amber List (moderate evidence)	TMEM107 Syndromic Retinopathy v1.2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Expert Review Green Expert Review Victorian Clinical Genetics Services Disease associations Joubert syndrome 29 MIM#617562 Orofaciodigital syndrome XVI MIM#617563 Tags
Amber Amber List (moderate evidence)	TRIM49 Retinitis pigmentosa v1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations retinitis pigmentosa MONDO:0019200 Tags
Amber Amber List (moderate evidence)	TUB Syndromic Retinopathy v1.2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber RetNet Disease associations Retinal dystrophy and obesity, MIM# 616188 Tags
Amber Amber List (moderate evidence)	UNC119 Cone-rod Dystrophy v1.0	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Cone-rod dystrophy 24, MIM# 620342 Tags
Amber Amber List (moderate evidence)	XXYLT1 Macular Dystrophy/Stargardt Disease v1.2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Disease associations Inherited retinal dystrophy, MONDO:0019118, XXYLT1-related Tags founder
Amber Amber List (moderate evidence)	ZDHHC16 Optic Atrophy v2.9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations neurodevelopmental disorder MONDO:0700092, ZDHHC16-related Tags
Amber Amber List (moderate evidence)	ZNF513 Retinitis pigmentosa v1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Retinitis pigmentosa 58, 613617 Tags
Red Red List (low evidence)	ADGRA3 Retinitis pigmentosa v1.14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Disease associations Retinitis pigmentosa, MONDO:0019200, ADGRA3-related Tags
Red Red List (low evidence)	AFG3L2 Syndromic Retinopathy v1.2	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Expert list RetNet Victorian Clinical Genetics Services Disease associations Spastic ataxia 5, autosomal recessive (MIM#614487) Spinocerebellar ataxia 28 (MIM#610246) Optic atrophy 12, MIM# 618977 Tags
Red Red List (low evidence)	ATRAID Retinitis pigmentosa v1.14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Literature Disease associations ATRAID-related retinitis pigmentosa, MONDO:0019200 Tags
Red Red List (low evidence)	BAIAP3 Retinitis pigmentosa v1.14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Retinitis pigmentosa MONDO:0019200, BAIAP3-related Tags
Red Red List (low evidence)	CA4 Retinitis pigmentosa v1.14	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Red Expert Review Red Disease associations Retinitis pigmentosa 17, 600852 Tags disputed
Red Red List (low evidence)	CCT2 Retinitis pigmentosa v1.14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Disease associations Leber's congenital amaurosis Tags
Red Red List (low evidence)	CEP19 Bardet Biedl syndrome v2.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Bardet Biedl syndrome Tags
Red Red List (low evidence)	CIB2 Usher Syndrome v2.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Disease associations Usher syndrome, type IJ, 614869 Tags refuted
Red Red List (low evidence)	DTHD1 Syndromic Retinopathy v1.2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Disease associations Leber congenital amaurosis with muscle dystrophy Tags
Red Red List (low evidence)	DYNC2I2 Retinitis pigmentosa v1.14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Retinitis pigmentosa Tags
Red Red List (low evidence)	ELOVL4 Syndromic Retinopathy v1.2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red RetNet Disease associations Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110 Stargardt disease 3, 600110 Ichthyosis, spastic quadriplegia, and mental retardation, 614457 Tags
Red Red List (low evidence)	ESPN Usher Syndrome v2.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Disease associations Usher syndrome, type 1M, MIM#618632 Tags
Red Red List (low evidence)	FSCN2 Retinitis pigmentosa v1.14	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Royal Melbourne Hospital Expert Review Red Royal Melbourne Hospital Royal Melbourne Hospital Disease associations Retinitis pigmentosa 30 MIM#607921 Macular degeneration Tags
Red Red List (low evidence)	FSCN2 Macular Dystrophy/Stargardt Disease v1.2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Disease associations Retinitis pigmentosa 30 MIM#607921 Macular degeneration Tags
Red Red List (low evidence)	HARS1 Syndromic Retinopathy v1.2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red RetNet Victorian Clinical Genetics Services Disease associations Usher syndrome type 3B Tags refuted
Red Red List (low evidence)	HARS1 Usher Syndrome v2.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Usher syndrome type 3B Tags refuted
Red Red List (low evidence)	HKDC1 Retinitis pigmentosa v1.14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Retinitis pigmentosa 92, MIM# 619614 Tags
Red Red List (low evidence)	HMCN1 Macular Dystrophy/Stargardt Disease v1.2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Disease associations Macular Degeneration Tags
Red Red List (low evidence)	ITM2B Congenital Stationary Night Blindness v1.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Disease associations ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities MIM#616079 Tags
Red Red List (low evidence)	MAPKAPK3 Macular Dystrophy/Stargardt Disease v1.2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Literature Disease associations patterned macular dystrophy 3 MONDO:0014920 Tags
Red Red List (low evidence)	MIEF1 Optic Atrophy v2.9	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Disease associations Optic atrophy 14 (MIM#620550) Tags
Red Red List (low evidence)	MIR204 Optic Atrophy v2.9	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Retinal dystrophy and iris coloboma with or without cataract (MIM#616722) Tags non-coding gene
Red Red List (low evidence)	MIR204 Cone-rod Dystrophy v1.0	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Retinal dystrophy and iris coloboma with or without cataract (MIM#616722) Tags non-coding gene
Red Red List (low evidence)	MTPAP Optic Atrophy v2.9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Spastic ataxia 4, autosomal recessive 613672 Tags
Red Red List (low evidence)	NDUFA7 Optic Atrophy v2.9	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Disease associations Optic atrophy, MONDO:0003608, NDUFA7-related Tags
Red Red List (low evidence)	PAK2 Syndromic Retinopathy v1.2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Disease associations Knobloch syndrome 2 MIM#618458 Tags
Red Red List (low evidence)	PBX1 Optic Atrophy v2.9	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay Tags
Red Red List (low evidence)	PDE6H Cone-rod Dystrophy v1.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Disease associations Retinal Cone Dystrophy 3, 610024 Tags
Red Red List (low evidence)	PISD Syndromic Retinopathy v1.2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Liberfarb syndrome MIM#618889 Tags
Red Red List (low evidence)	PITPNM3 Cone-rod Dystrophy v1.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Royal Melbourne Hospital Disease associations Cone-rod dystrophy 5, 600977 Tags
Red Red List (low evidence)	PITPNM3 Retinitis pigmentosa v1.14	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Red Expert Review Red Royal Melbourne Hospital Disease associations Cone-rod dystrophy 5, 600977 Tags
Red Red List (low evidence)	PITPNM3 Macular Dystrophy/Stargardt Disease v1.2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Disease associations Cone-rod dystrophy 5, 600977 Tags
Red Red List (low evidence)	PMPCA Retinitis pigmentosa v1.14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Disease associations Spinocerebellar ataxia, autosomal recessive 2 Tags
Red Red List (low evidence)	PRKCG Retinitis pigmentosa v1.14	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert list Disease associations Retinitis pigmentosa 11 MIM#600138 Tags
Red Red List (low evidence)	RDH8 Retinitis pigmentosa v1.14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Stargardt disease 5, MIM# 621259 Tags
Red Red List (low evidence)	RGR Retinitis pigmentosa v1.14	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Disease associations Retinitis pigmentosa 44, 613769 Tags disputed
Red Red List (low evidence)	RIMS1 Cone-rod Dystrophy v1.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Cone-rod dystrophy 7, 603649 Tags
Red Red List (low evidence)	RP9 Retinitis pigmentosa v1.14	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Red Disease associations Retinitis pigmentosa 9, 180104 Tags
Red Red List (low evidence)	SAMD11 Retinitis pigmentosa v1.14	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Disease associations retinitis pigmentosa, MONDO:0019200, SAMD11-related Tags founder
Red Red List (low evidence)	SCAPER Retinitis pigmentosa v1.14	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Literature Disease associations Intellectual developmental disorder and retinitis pigmentosa MIM#618195 Tags
Red Red List (low evidence)	SCLT1 Retinitis pigmentosa v1.14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Disease associations Nonsyndromic retinitis pigmentosa Tags
Red Red List (low evidence)	SLC24A1 Optic Atrophy v2.9	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Night blindness, congenital stationary (complete), 1D, autosomal recessive 613830 Tags
Red Red List (low evidence)	SLC27A3 Optic Atrophy v2.9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Literature Disease associations Inherited neurodegenerative disorder, MONDO:0024237, SLC27A3-related Tags
Red Red List (low evidence)	SLC39A12 Retinitis pigmentosa v1.14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Retinitis pigmentosa, MONDO:0019200, SLC39A12-related Tags
Red Red List (low evidence)	SLC7A14 Retinitis pigmentosa v1.14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Disease associations Retinitis pigmentosa 68, 615725 (3) Tags disputed
Red Red List (low evidence)	SPG7 Optic Atrophy v2.9	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Autosomal dominant mitochondrial disease, MONDO:MONDO:0044970 Tags
Red Red List (low evidence)	SPP2 Retinitis pigmentosa v1.14	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Red Expert Review Red Royal Melbourne Hospital Disease associations Autosomal dominant retinitis pigmentosa Tags
Red Red List (low evidence)	TRIM32 Bardet Biedl syndrome v2.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 11, MIM# 615988 Tags
Red Red List (low evidence)	UBA5 Optic Atrophy v2.9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Epileptic encephalopathy, early infantile, 44 (MIM#617132) Tags
Red Red List (low evidence)	VSX2 Cone-rod Dystrophy v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations smooth irides lens subluxation cone-rod dysfunction high myopia Tags
Red Red List (low evidence)	WDPCP Bardet Biedl syndrome v2.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 15, MIM# 615992 Tags
Red Red List (low evidence)	YME1L1 Optic Atrophy v2.9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Optic atrophy 11 MIM#617302 Tags
Red Red List (low evidence)	ZNF124 Retinitis pigmentosa v1.14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Literature Disease associations Retinitis pigmentosa, MONDO:0019200, ZNF124-related Tags
Red Red List (low evidence)	ZNF423 Syndromic Retinopathy v1.2	3 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red RetNet Royal Melbourne Hospital Disease associations Joubert syndrome 19 (MIM#614844) Tags
No list No list	ATXN7 Syndromic Retinopathy v1.2	1 review 1 green	Unknown	Sources Expert Review Removed Expert list RetNet Tags STR

Retinal Disorders Superpanel (Version 6.511)

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