Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ABCA4 gene ABCA4 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormal retinal morphology;HP:0000479 9054934;30480703;29847635;29971439;16103129;30643219 False 3 100;0;0 6.257 True ENSG00000198691 ENSG00000198691 HGNC:34 ABCA4 gene ABCA4 Expert Review Green;Royal Melbourne Hospital;Expert Review Green Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 3, 604116 Abnormal retinal morphology;HP:0000479 30679166 False 3 100;0;0 6.257 False ENSG00000198691 ENSG00000198691 HGNC:34 ABCA4 gene ABCA4 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormal retinal morphology;HP:0000479 9054934;30480703;29847635;29971439;16103129;30643219 False 3 100;0;0 6.257 True ENSG00000198691 ENSG00000198691 HGNC:34 ABCC6 gene ABCC6 Expert Review Green;RetNet Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Pseudoxanthoma elasticum, MIM#264800 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 True ENSG00000091262 ENSG00000091262 HGNC:57 ABHD12 gene ABHD12 Expert Review Green;Royal Melbourne Hospital;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857;Usher syndrome type 3 Abnormal retinal morphology;HP:0000479 20797687;24697911 False 3 100;0;0 6.257 True ENSG00000100997 ENSG00000100997 HGNC:15868 ABHD12 gene ABHD12 Expert Review Green;Expert list;RetNet;Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC);Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000100997 ENSG00000100997 HGNC:15868 ABHD12 gene ABHD12 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal nonsyndromic retinitis pigmentosa;Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857 Abnormal retinal morphology;HP:0000479 24697911 False 3 0;0;0 6.257 False ENSG00000100997 ENSG00000100997 HGNC:15868 ACBD5 gene ACBD5 Expert Review Green;RetNet;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy with leukodystrophy (MIM#618863) Abnormal retinal morphology;HP:0000479 23105016;27799409;33427402 False 3 50;50;0 6.257 True ENSG00000107897 ENSG00000107897 HGNC:23338 ACO2 gene ACO2 Expert Review Green;RetNet;Expert Review Green;Expert list;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Infantile cerebellar-retinal degeneration, 614559 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000100412 ENSG00000100412 HGNC:118 ACO2 gene ACO2 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Optic atrophy 9, MIM# 616289;Infantile cerebellar-retinal degeneration, MIM# 614559 Abnormal retinal morphology;HP:0000479 25351951;22405087;34056600 False 3 100;0;0 6.257 True ENSG00000100412 ENSG00000100412 HGNC:118 ADAM9 gene ADAM9 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 9, 612775 Abnormal retinal morphology;HP:0000479 30679166 False 3 0;0;0 6.257 False ENSG00000168615 ENSG00000168615 HGNC:216 ADAMTS18 gene ADAMTS18 Expert Review Green;RetNet Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal microcornea-myopic chorioretinal atrophy (MONDO:0014195) Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 True ENSG00000140873 ENSG00000140873 HGNC:17110 ADGRV1 gene ADGRV1 Expert Review Green;Royal Melbourne Hospital;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 2C, MIM# 605472 Abnormal retinal morphology;HP:0000479 22147658;25572244;14740321 False 3 100;0;0 6.257 True ENSG00000164199 ENSG00000164199 HGNC:17416 AFG3L2 gene AFG3L2 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Optic atrophy 12, MIM# 618977" Abnormal retinal morphology;HP:0000479 29181157;26539208;30252181;30389403;32219868;32600459;32548275 False 3 100;0;0 6.257 True ENSG00000141385 ENSG00000141385 HGNC:315 AFG3L2 gene AFG3L2 Expert Review Green;Expert list;RetNet;Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders Unknown Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000141385 ENSG00000141385 HGNC:315 AGBL5 gene AGBL5 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 75 617023 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000084693 ENSG00000084693 HGNC:26147 AHI1 gene AHI1 Expert Review Green;RetNet;Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 17 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000135541 ENSG00000135541 HGNC:21575 AHI1 gene AHI1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal nonsyndromic retinitis pigmentosa;Joubert syndrome 17 Abnormal retinal morphology;HP:0000479 28442542 False 3 0;0;0 6.257 False ENSG00000135541 ENSG00000135541 HGNC:21575 AIPL1 gene AIPL1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal AIPL1-related retinopathy (MONDO:0100438) Abnormal retinal morphology;HP:0000479 https://search.clinicalgenome.org/CCID:004084 False 3 100;0;0 6.257 True ENSG00000129221 ENSG00000129221 HGNC:359 AIPL1 gene AIPL1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Leber congenital amaurosis 4, 604393;Cone-rod dystrophy, 604393;Retinitis pigmentosa, juvenile, 604393 Abnormal retinal morphology;HP:0000479 30679166 False 3 0;0;0 6.257 False ENSG00000129221 ENSG00000129221 HGNC:359 AIRE gene AIRE Expert Review Green;NHS GMS Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300" Abnormal retinal morphology;HP:0000479 27606815 False 3 100;0;0 6.257 True ENSG00000160224 ENSG00000160224 HGNC:360 ALMS1 gene ALMS1 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Alstrom syndrome, MIM# 203800 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 True ENSG00000116127 ENSG00000116127 HGNC:428 ALMS1 gene ALMS1 Expert Review Green;RetNet;Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Alstrom syndrome Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000116127 ENSG00000116127 HGNC:428 ALPK1 gene ALPK1 Expert Review Green;Literature;Literature Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH) syndrome, MIM#614979 Abnormal retinal morphology;HP:0000479 30967659;31939038 False 3 100;0;0 6.257 True ENSG00000073331 ENSG00000073331 HGNC:20917 AMACR gene AMACR Expert Review Green;Expert Review Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Alpha-methylacyl-CoA racemase deficiency, MIM# 614307" Abnormal retinal morphology;HP:0000479 21686617;20821052;11861706;10655068;15249642;23286897 False 3 100;0;0 6.257 True ENSG00000242110 ENSG00000242110 HGNC:451 ANTXR1 gene ANTXR1 Expert Review Green;Expert Review Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal GAPO syndrome, MIM# 230740 Abnormal retinal morphology;HP:0000479 23602711;25045128;31425299;30575274;29436111;28870703 False 3 100;0;0 6.257 True ENSG00000169604 ENSG00000169604 HGNC:21014 AP3B2 gene AP3B2 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Early-onset epileptic encephalopathy with optic atrophy, MIM#617276 Abnormal retinal morphology;HP:0000479 27889060 False 3 100;0;0 6.257 True ENSG00000103723 ENSG00000103723 HGNC:567 ARHGEF18 gene ARHGEF18 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 78 617433 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000104880 ENSG00000104880 HGNC:17090 ARL13B gene ARL13B Expert Review Green;Expert Review Green;Expert list;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 8 MIM#612291 Abnormal retinal morphology;HP:0000479 18674751;30573647;25138100;29255182 False 3 100;0;0 6.257 True ENSG00000169379 ENSG00000169379 HGNC:25419 ARL2BP gene ARL2BP Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa with or without situs inversus, 615434 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000102931 ENSG00000102931 HGNC:17146 ARL3 gene ARL3 Expert Review Green;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 35 MIM#618161 Abnormal retinal morphology;HP:0000479 30269812;16565502 False 3 100;0;0 6.257 True ENSG00000138175 ENSG00000138175 HGNC:694 ARL6 gene ARL6 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 3, MIM# 600151 Abnormal retinal morphology;HP:0000479 15258860;32361989;31888296;25402481 False 3 100;0;0 6.257 True ENSG00000113966 ENSG00000113966 HGNC:13210 ARSG gene ARSG Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type IV, 618144 Abnormal retinal morphology;HP:0000479 29300381;20679209;25452429;26975023;33300174;32455177 False 3 50;0;50 6.257 True ENSG00000141337 ENSG00000141337 HGNC:24102 ATAD3A gene ATAD3A Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Harel-Yoon syndrome, MIM#617183 Abnormal retinal morphology;HP:0000479 27640307;28652416 False 3 100;0;0 6.257 True Other ENSG00000197785 ENSG00000197785 HGNC:25567 ATG7 gene ATG7 Expert Review Green;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, SCAR31, MIM#619422 Abnormal retinal morphology;HP:0000479 34161705 False 3 100;0;0 6.257 True ENSG00000197548 ENSG00000197548 HGNC:16935 ATOH7 gene ATOH7 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Persistent hyperplastic primary vitreous, autosomal recessive, MIM# 221900;microphthalmia;cataract;glaucoma;congenital retinal nonattachment Abnormal retinal morphology;HP:0000479 22068589;22645276;31696227;11493566;11493566 False 3 100;0;0 6.257 True ENSG00000179774 ENSG00000179774 HGNC:13907 BBS1 gene BBS1 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 1, MIM# 209900 Abnormal retinal morphology;HP:0000479 20177705 False 3 100;0;0 6.257 True ENSG00000174483 ENSG00000174483 HGNC:966 BBS1 gene BBS1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 10, MIM# 615987 Abnormal retinal morphology;HP:0000479 16582908;19252258 False 3 100;0;0 6.257 True ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 12, MIM# 615989 Abnormal retinal morphology;HP:0000479 19797195;29633607;26082521 False 3 100;0;0 6.257 True ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 2;Retinitis pigmentosa 74 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000125124 ENSG00000125124 HGNC:967 BBS2 gene BBS2 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 2, MIM# 615981 Abnormal retinal morphology;HP:0000479 11567139;16823392;28143435 False 3 100;0;0 6.257 True ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 4, MIM#615982;MONDO:0014433 Abnormal retinal morphology;HP:0000479 12016587;11381270 False 3 100;0;0 6.257 True ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 5, MIM#615983;MONDO:0014434 Abnormal retinal morphology;HP:0000479 19252258;15137946;10053027;15637713 False 3 100;0;0 6.257 True ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 7, MIM# 615984;MONDO:0014435 Abnormal retinal morphology;HP:0000479 12567324;21937992;19797195 False 3 100;0;0 6.257 True ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 9, MIM#615986;MONDO:0014437 Abnormal retinal morphology;HP:0000479 16380913;22353939;32686083;32037757 False 3 100;0;0 6.257 True ENSG00000122507 ENSG00000122507 HGNC:30000 BEST1 gene BEST1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal 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 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000167995 ENSG00000167995 HGNC:12703 BEST1 gene BEST1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal 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 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000167995 ENSG00000167995 HGNC:12703 BEST1 gene BEST1 Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vitreoretinochoroidopathy, MIM# 193220 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 True ENSG00000167995 ENSG00000167995 HGNC:12703 BEST1 gene BEST1 Royal Melbourne Hospital;Expert Review Green Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal 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 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000167995 ENSG00000167995 HGNC:12703 BORCS8 gene BORCS8 Expert Review Green;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987 Abnormal retinal morphology;HP:0000479 38128568 False 3 100;0;0 6.257 True ENSG00000254901 ENSG00000254901 HGNC:37247 C12orf65 gene C12orf65 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 7;Spastic paraplegia 55, autosomal recessive Abnormal retinal morphology;HP:0000479 20598281;23188110;24198383 False 3 100;0;0 6.257 True ENSG00000130921 ENSG00000130921 HGNC:26784 C19orf12 gene C19orf12 Expert Review Green;Expert Review Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "?Spastic paraplegia 43, autosomal recessive 61504;Neurodegeneration with brain iron accumulation 4 614298" Abnormal retinal morphology;HP:0000479 PMID: 22584950;21981780;23857908 False 3 100;0;0 6.257 True ENSG00000131943 ENSG00000131943 HGNC:25443 C1QTNF5 gene C1QTNF5 Royal Melbourne Hospital;Expert Review Green Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinal degeneration, late-onset, autosomal dominant, 605670;Retinitis pigmentosa Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000223953 ENSG00000223953 HGNC:14344 C1QTNF5 gene C1QTNF5 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinal degeneration, late-onset, autosomal dominant MIM#605670 Abnormal retinal morphology;HP:0000479 33949280;12944416;30451557;28939808;32036094 False 3 100;0;0 6.257 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000223953 ENSG00000223953 HGNC:14344 C21orf2 gene C21orf2 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy with macular staphyloma, 617547 Abnormal retinal morphology;HP:0000479 30679166;26294103;23105016;27548899 False 3 100;0;0 6.257 True ENSG00000160226 ENSG00000160226 HGNC:1260 C2orf71 gene C2orf71 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 54 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000179270 ENSG00000179270 HGNC:34383 C8orf37 gene C8orf37 Expert Review Green;Royal Melbourne Hospital;Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 16, 614500;Retinitis pigmentosa 64, 614500 Abnormal retinal morphology;HP:0000479 30679166 False 3 100;0;0 6.257 False ENSG00000156172 ENSG00000156172 HGNC:27232 C8orf37 gene C8orf37 Expert Review Green;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Achromatopsia, Cone, and Cone-rod Dystrophy;Retinitis pigmentosa 64, 614500 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000156172 ENSG00000156172 HGNC:27232 CABP4 gene CABP4 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427 Abnormal retinal morphology;HP:0000479 16960802;19074807;20157620;33369259 False 3 100;0;0 6.257 True ENSG00000175544 ENSG00000175544 HGNC:1386 CACNA1F gene CACNA1F Expert Review Green;Expert list Retinal Disorders Superpanel Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked retinitis pigmentosa Abnormal retinal morphology;HP:0000479 26075273;25999675 False 3 100;0;0 6.257 False ENSG00000102001 ENSG00000102001 HGNC:1393 CACNA1F gene CACNA1F Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Cone-rod dystropy, X-linked, 3, 300476;Aland Island eye disease, 300600;Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000102001 ENSG00000102001 HGNC:1393 CACNA1F gene CACNA1F Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Cone-rod dystropy, X-linked, 3, 300476 Abnormal retinal morphology;HP:0000479 30679166 False 3 0;0;0 6.257 False ENSG00000102001 ENSG00000102001 HGNC:1393 CACNA2D4 gene CACNA2D4 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinal cone dystrophy 4, 610478;Congenital Stationary Night Blindness Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000151062 ENSG00000151062 HGNC:20202 CACNA2D4 gene CACNA2D4 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinal cone dystrophy 4, 610478 Abnormal retinal morphology;HP:0000479 30679166 False 3 0;0;0 6.257 False ENSG00000151062 ENSG00000151062 HGNC:20202 CAPN5 gene CAPN5 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vitreoretinopathy, neovascular inflammatory, MIM# 193235 Abnormal retinal morphology;HP:0000479 23055945;32274441;31110225;30986125 False 3 100;0;0 6.257 True ENSG00000149260 ENSG00000149260 HGNC:1482 CC2D2A gene CC2D2A Expert Review Green;RetNet Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal COACH syndrome, MIM#216360;Joubert syndrome 9, MIM#612285;Meckel syndrome 6, MIM#612284;Retinitis pigmentosa 93, MIM# 619845 Abnormal retinal morphology;HP:0000479 22241855;27081510;30267408 False 3 100;0;0 6.257 True ENSG00000048342 ENSG00000048342 HGNC:29253 CDH23 gene CDH23 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 1D 601067;Usher syndrome, type 1D/F digenic 601067 Abnormal retinal morphology;HP:0000479 11138009;25468891;21940737 False 3 100;0;0 6.257 True ENSG00000107736 ENSG00000107736 HGNC:13733 CDH3 gene CDH3 Royal Melbourne Hospital;Expert Review Green Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280;Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000062038 ENSG00000062038 HGNC:1762 CDHR1 gene CDHR1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 15, 613660 Abnormal retinal morphology;HP:0000479 30679166 False 3 0;0;0 6.257 False ENSG00000148600 ENSG00000148600 HGNC:14550 CDHR1 gene CDHR1 Expert Review Green;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Genetic macular dystrophy MONDO:0020242 Abnormal retinal morphology;HP:0000479 32681094;31387115;35627310 False 3 100;0;0 6.257 True ENSG00000148600 ENSG00000148600 HGNC:14550 CDHR1 gene CDHR1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Achromatopsia, Cone, and Cone-rod Dystrophy;Cone-Rod Dystrophy, Recessive;Retinitis pigmentosa 65;Cone-rod dystrophy 15, 613660 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000148600 ENSG00000148600 HGNC:14550 CEP164 gene CEP164 Expert Review Green;RetNet;Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000110274 ENSG00000110274 HGNC:29182 CEP164 gene CEP164 Expert Review Green;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome Abnormal retinal morphology;HP:0000479 34132027;34013113;32055034;27708425;22863007 False 3 100;0;0 6.257 True ENSG00000110274 ENSG00000110274 HGNC:29182 CEP250 gene CEP250 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Usher-like disease;Cone-rod dystrophy and hearing loss 2, 618358 Abnormal retinal morphology;HP:0000479 24780881;29718797;30459346 False 3 100;0;0 6.257 True ENSG00000126001 ENSG00000126001 HGNC:1859 CEP290 gene CEP290 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 6, 610189;Meckel syndrome 4, 611134;Leber congenital amaurosis 10, 611755;Joubert syndrome 5, 610188;Bardet-Biedl syndrome 14, 209900 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000198707 ENSG00000198707 HGNC:29021 CEP290 gene CEP290 Expert Review Green;RetNet;Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 4, 611134;Senior-Loken syndrome 6, 610189;Bardet-Biedl syndrome 14, 209900;Leber congenital amaurosis 10, 611755;Joubert syndrome 5, 610188 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000198707 ENSG00000198707 HGNC:29021 CEP290 gene CEP290 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 14, MIM# 615991 Abnormal retinal morphology;HP:0000479 18327255;20690115 False 3 100;0;0 6.257 True ENSG00000198707 ENSG00000198707 HGNC:29021 CEP76 gene CEP76 Expert Review Green;Other Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038;Joubert syndrome;Bardet-Biedl syndrome;retinitis pigmentosa Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 True ENSG00000101624 ENSG00000101624 HGNC:25727 CEP78 gene CEP78 Expert Review Green;Royal Melbourne Hospital;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-Rod Dystrophy and Hearing Loss, 617236 Abnormal retinal morphology;HP:0000479 28005958;27588451;27588452;27627988 False 3 100;0;0 6.257 True ENSG00000148019 ENSG00000148019 HGNC:25740 CEP83 gene CEP83 Expert Review Green;Expert Review Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 18, MIM# 615862;MONDO:0014374;Retinal dystrophy;ID Abnormal retinal morphology;HP:0000479 24882706;33938610 False 3 100;0;0 6.257 True ENSG00000173588 ENSG00000173588 HGNC:17966 CERKL gene CERKL Royal Melbourne Hospital;Expert Review Green Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 26, 608380 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000188452 ENSG00000188452 HGNC:21699 CERKL gene CERKL Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy Abnormal retinal morphology;HP:0000479 30679166 False 3 0;0;0 6.257 False ENSG00000188452 ENSG00000188452 HGNC:21699 CERKL gene CERKL Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 26, MIM# 608380 Abnormal retinal morphology;HP:0000479 14681825;24043777;28838317;27208204;28130426;33322828;32865075;32411380 False 3 100;0;0 6.257 True ENSG00000188452 ENSG00000188452 HGNC:21699 CFAP20 gene CFAP20 Expert Review Green;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa (MONDO:0019200), CFAP20-related Abnormal retinal morphology;HP:0000479 PMID:36329026 False 3 100;0;0 6.257 True ENSG00000070761 ENSG00000070761 HGNC:29523 CFH gene CFH Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Basal laminar drusen, 126700 Abnormal retinal morphology;HP:0000479 27572114;25814826 False 3 100;0;0 6.257 True ENSG00000000971 ENSG00000000971 HGNC:4883 CHM gene CHM Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Retinitis pigmentosa;Choroideremia (degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye) Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000188419 ENSG00000188419 HGNC:1940 CHM gene CHM Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Choroideremia (degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye) Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000188419 ENSG00000188419 HGNC:1940 CISD2 gene CISD2 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Wolfram syndrome 2, MIM#604928 Abnormal retinal morphology;HP:0000479 19451219;25056293;28335035;31391115;25371195 False 3 100;0;0 6.257 True ENSG00000145354 ENSG00000145354 HGNC:24212 CLCN2 gene CLCN2 Expert Review Green;Literature;Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Leukoencephalopathy with ataxia MIM# 615651" Abnormal retinal morphology;HP:0000479 36964785 False 3 100;0;0 6.257 True ENSG00000114859 ENSG00000114859 HGNC:2020 CLEC3B gene CLEC3B Expert Review Green;Literature Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Macular dystrophy, retinal, 4, OMIM #619977 Abnormal retinal morphology;HP:0000479 PMID: 35331648 False 3 100;0;0 6.257 True ENSG00000163815 ENSG00000163815 HGNC:11891 CLN3 gene CLN3 Expert Review Green;RetNet;Expert Review Green;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Juvenile neuronal ceroid lipofuscinosis;Retinitis pigmentosa Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000188603 ENSG00000188603 HGNC:2074 CLN3 gene CLN3 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa;Juvenile neuronal ceroid lipofuscinosis Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000188603 ENSG00000188603 HGNC:2074 CLN5 gene CLN5 Expert Review Green;Expert Review Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 5 OMIM #256731 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 True ENSG00000102805 ENSG00000102805 HGNC:2076 CLN6 gene CLN6 Expert Review Green;Expert Review Green;Expert Review Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 6 OMIM #601780 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 True ENSG00000128973 ENSG00000128973 HGNC:2077 CLN8 gene CLN8 Expert Review Green;Expert Review Green;Expert Review Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 8 OMIM #600143 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 True ENSG00000182372 ENSG00000182372 HGNC:2079 CLRN1 gene CLRN1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 61, 614180 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000163646 ENSG00000163646 HGNC:12605 CLRN1 gene CLRN1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 3A, 276902;Retinitis pigmentosa 61, 614180 Abnormal retinal morphology;HP:0000479 11524702;24596593;22135276;21675857;19753315;27110679;26943149;22787034 False 3 100;0;0 6.257 True ENSG00000163646 ENSG00000163646 HGNC:12605 CNGA1 gene CNGA1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 49, 613756 Abnormal retinal morphology;HP:0000479 33633220;32705276;30652268;20301590;7479749 False 3 100;0;0 6.257 True ENSG00000198515 ENSG00000198515 HGNC:2148 CNGA3 gene CNGA3 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Achromatopsia 2MIM#216900 Abnormal retinal morphology;HP:0000479 30679166 False 3 0;0;0 6.257 False ENSG00000144191 ENSG00000144191 HGNC:2150 CNGB1 gene CNGB1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 45, MIM#613767 Abnormal retinal morphology;HP:0000479 11379879;15557452;23661369;33847019 False 3 100;0;0 6.257 True ENSG00000070729 ENSG00000070729 HGNC:2151 CNGB3 gene CNGB3 Royal Melbourne Hospital;Expert Review Green Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Macular degeneration, juvenile, 248200 -3;Achromatopsia-3, 262300;Stargardt Disease, Recessive Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000170289 ENSG00000170289 HGNC:2153 CNGB3 gene CNGB3 Expert Review Green;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Achromatopsia 3 MIM#262300 Abnormal retinal morphology;HP:0000479 17265047 False 3 100;0;0 6.257 True ENSG00000170289 ENSG00000170289 HGNC:2153 CNGB3 gene CNGB3 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Achromatopsia-3, 262300 Abnormal retinal morphology;HP:0000479 30679166 False 3 0;0;0 6.257 False ENSG00000170289 ENSG00000170289 HGNC:2153 CNNM4 gene CNNM4 Expert Review Green;Expert list;Victorian Clinical Genetics Services;Expert Review Green Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Jalili syndrome MIM#217080 Abnormal retinal morphology;HP:0000479 30705057 False 3 100;0;0 6.257 True ENSG00000158158 ENSG00000158158 HGNC:105 COL11A1 gene COL11A1 RetNet;Expert Review Green Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Stickler syndrome, type II, MIM#604841 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000060718 ENSG00000060718 HGNC:2186 COL11A1 gene COL11A1 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Stickler syndrome, type II, MIM# 604841, MONDO:0011493 Abnormal retinal morphology;HP:0000479 32578940 False 3 100;0;0 6.257 True ENSG00000060718 ENSG00000060718 HGNC:2186 COL11A2 gene COL11A2 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Stickler syndrome type 3 Abnormal retinal morphology;HP:0000479 25240749;22796475;20112039 False 3 100;0;0 6.257 True ENSG00000204248 ENSG00000204248 HGNC:2187 COL18A1 gene COL18A1 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Knobloch syndrome, type 1, MIM# 267750 Abnormal retinal morphology;HP:0000479 27259167;25456301 False 3 100;0;0 6.257 True ENSG00000182871 ENSG00000182871 HGNC:2195 COL2A1 gene COL2A1 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Stickler syndrome, type I, MIM# 108300 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 True ENSG00000139219 ENSG00000139219 HGNC:2200 COL2A1 gene COL2A1 RetNet;Expert Review Green Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Stickler syndrome, type I Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000139219 ENSG00000139219 HGNC:2200 COL9A1 gene COL9A1 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Stickler syndrome, type IV, MIM# 614134 Abnormal retinal morphology;HP:0000479 16909383;21421862;31090205 False 3 100;0;0 6.257 True ENSG00000112280 ENSG00000112280 HGNC:2217 COL9A2 gene COL9A2 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Stickler syndrome, type V, MIM# 614284 Abnormal retinal morphology;HP:0000479 21671392;31090205;33356723 False 3 100;0;0 6.257 True ENSG00000049089 ENSG00000049089 HGNC:2218 COL9A3 gene COL9A3 Expert Review Green;Other;Other Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Stickler syndrome, type VI, MIM# 620022;Deafness, AD;Peripheral vitreoretinal degeneration and retinal detachment, AD Abnormal retinal morphology;HP:0000479 31090205;30450842;20301479;24273071;33633367 False 3 100;0;0 6.257 True ENSG00000092758 ENSG00000092758 HGNC:2219 COQ8B gene COQ8B Expert Review Green;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa MONDO:0019200 Abnormal retinal morphology;HP:0000479 39226897;25967120 False 3 100;0;0 6.257 True ENSG00000123815 ENSG00000123815 HGNC:19041 CRB1 gene CRB1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pigmented paravenous chorioretinal atrophy, 172870;Leber congenital amaurosis 8, 613835;Retinitis pigmentosa-12, autosomal recessive, 600105 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000134376 ENSG00000134376 HGNC:2343 CRB1 gene CRB1 Royal Melbourne Hospital;Expert Review Green Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Pigmented paravenous chorioretinal atrophy, 172870;Leber congenital amaurosis 8, 613835;Retinitis pigmentosa-12, autosomal recessive, 600105 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000134376 ENSG00000134376 HGNC:2343 CRB1 gene CRB1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Pigmented paravenous chorioretinal atrophy, 172870;Leber congenital amaurosis 8, 613835;Retinitis pigmentosa-12, autosomal recessive, 600105 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000134376 ENSG00000134376 HGNC:2343 CRX gene CRX Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cone-rod retinal dystrophy-2, 120970 Abnormal retinal morphology;HP:0000479 30679166 False 3 0;0;0 6.257 False ENSG00000105392 ENSG00000105392 HGNC:2383 CRX gene CRX Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cone-rod retinal dystrophy-2, 120970;Leber congenital amaurosis 7, 613829 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000105392 ENSG00000105392 HGNC:2383 CSPP1 gene CSPP1 Expert Review Green;RetNet;Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Genetic Retinal Degeneration Conditions;Joubert syndrome 21 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000104218 ENSG00000104218 HGNC:26193 CTC1 gene CTC1 Expert Review Green;Expert Review Green;Expert list;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcifications and cysts MIM#612199 Abnormal retinal morphology;HP:0000479 22267198 False 3 100;0;0 6.257 True ENSG00000178971 ENSG00000178971 HGNC:26169 CTNNA1 gene CTNNA1 Royal Melbourne Hospital;Expert Review Green Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Macular dystrophy, butterfly-shaped pigmentary, 2, MIM#608970 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000044115 ENSG00000044115 HGNC:2509 CTNNA1 gene CTNNA1 Expert Review Green;Literature Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial exudative vitreoretinopathy Abnormal retinal morphology;HP:0000479 33497368 False 3 100;0;0 6.257 True ENSG00000044115 ENSG00000044115 HGNC:2509 CTNNB1 gene CTNNB1 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Exudative vitreoretinopathy 7, MIM# 617572;Neurodevelopmental disorder with spastic diplegia and visual defects, MIM# 615075 Abnormal retinal morphology;HP:0000479 28575650;33350591;32039639 False 3 100;0;0 6.257 True ENSG00000168036 ENSG00000168036 HGNC:2514 CTNNB1 gene CTNNB1 Expert Review Green;Expert Review Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with spastic diplegia and visual defects, MIM# 615075 Abnormal retinal morphology;HP:0000479 33350591 False 3 100;0;0 6.257 True ENSG00000168036 ENSG00000168036 HGNC:2514 CTSD gene CTSD Expert Review Green;Expert Review Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 10, OMIM #610127 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 True ENSG00000117984 ENSG00000117984 HGNC:2529 CTSF gene CTSF Expert Review Green;Expert Review Green;Expert Review Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM #615362 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 True ENSG00000174080 ENSG00000174080 HGNC:2531 CWC27 gene CWC27 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa with or without skeletal anomalies, 250410 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000153015 ENSG00000153015 HGNC:10664 CYP4V2 gene CYP4V2 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa;Bietti crystalline corneoretinal dystrophy, 210370 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000145476 ENSG00000145476 HGNC:23198 DHDDS gene DHDDS Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type 1bb, MIM# 613861 Abnormal retinal morphology;HP:0000479 27343064;21295283;28130426;29276052;32483926;36046393;24078709;28005406;36046393;32272552;33077723 False 3 50;50;0 6.257 True ENSG00000117682 ENSG00000117682 HGNC:20603 DNAJC30 gene DNAJC30 Expert Review Green;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber Hereditary Optic Neuropathy, MIM#619382 Abnormal retinal morphology;HP:0000479 33465056 False 3 100;0;0 6.257 True ENSG00000176410 ENSG00000176410 HGNC:16410 DNM1L gene DNM1L Expert Review Green;Expert Review Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Optic atrophy 5 (MIM#610708) Abnormal retinal morphology;HP:0000479 28969390;30850373;17460227 False 3 100;0;0 6.257 True Other ENSG00000087470 ENSG00000087470 HGNC:2973 DRAM2 gene DRAM2 Royal Melbourne Hospital;Expert Review Green Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 21, MIM#616502 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000156171 ENSG00000156171 HGNC:28769 DYNC2H1 gene DYNC2H1 Expert Review Green;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal non-syndromic retinitis pigmentosa Abnormal retinal morphology;HP:0000479 PMID: 32753734 False 3 100;0;0 6.257 True ENSG00000187240 ENSG00000187240 HGNC:2962 EFEMP1 gene EFEMP1 Royal Melbourne Hospital;Expert Review Green Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inherited macular dystrophy (Doyne/dominant drusen) Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000115380 ENSG00000115380 HGNC:3218 ELOVL4 gene ELOVL4 Royal Melbourne Hospital;Expert Review Green Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110;Stargardt disease 3, 600110;Ichthyosis, spastic quadriplegia, and mental retardation, 614457 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000118402 ENSG00000118402 HGNC:14415 ELOVL4 gene ELOVL4 Expert Review Green;RetNet;Expert Review Green Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110;Stargardt disease 3, 600110;Ichthyosis, spastic quadriplegia, and mental retardation, 614457 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000118402 ENSG00000118402 HGNC:14415 ERCC6 gene ERCC6 Expert Review Green;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type B MIM#133540 Abnormal retinal morphology;HP:0000479 26204423 False 3 100;0;0 6.257 False ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 Expert Review Green;Expert Review Green;Literature;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type A MIM#216400 Abnormal retinal morphology;HP:0000479 26204423 False 3 100;0;0 6.257 True ENSG00000049167 ENSG00000049167 HGNC:3439 EXOSC2 gene EXOSC2 Expert Review Green;Expert list;RetNet;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, MIM# 617763 Abnormal retinal morphology;HP:0000479 26843489;31628467 False 3 50;50;0 6.257 True ENSG00000130713 ENSG00000130713 HGNC:17097 EYS gene EYS Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 25, 602772 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000188107 ENSG00000188107 HGNC:21555 FAM161A gene FAM161A Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 28, 606068;Retinitis pigmentosa 28 MONDO:0011630 Abnormal retinal morphology;HP:0000479 20705278;20705279;31236346;24833722 False 3 100;0;0 6.257 True ENSG00000170264 ENSG00000170264 HGNC:25808 FAM57B gene FAM57B Expert Review Green;Expert Review Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 22, MIM# 619531;Maculopathy Abnormal retinal morphology;HP:0000479 33077892 False 3 100;0;0 6.257 True ENSG00000149926 ENSG00000149926 HGNC:25295 FAM57B gene FAM57B Expert Review Green;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 22, MIM# 619531;Maculopathy Abnormal retinal morphology;HP:0000479 PMID: 33077892 False 3 100;0;0 6.257 True ENSG00000149926 ENSG00000149926 HGNC:25295 FDXR gene FDXR Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Auditory neuropathy and optic atrophy, MIM#617717 Abnormal retinal morphology;HP:0000479 30250212;28965846 False 3 100;0;0 6.257 True ENSG00000161513 ENSG00000161513 HGNC:3642 FLVCR1 gene FLVCR1 Expert Review Green;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder MONDO:0700092, FLVCR1-related Abnormal retinal morphology;HP:0000479 39306721 False 3 100;0;0 6.257 True ENSG00000162769 ENSG00000162769 HGNC:24682 FLVCR1 gene FLVCR1 Expert Review Green;Expert list;RetNet;Expert Review Green Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Ataxia, posterior column, with retinitis pigmentosa, 609033 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000162769 ENSG00000162769 HGNC:24682 FLVCR1 gene FLVCR1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Ataxia, posterior column, with retinitis pigmentosa, 609033 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000162769 ENSG00000162769 HGNC:24682 FZD4 gene FZD4 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Exudative vitreoretinopathy 1, MIM# 133780 Abnormal retinal morphology;HP:0000479 21097938;33302760;31999491 False 3 100;0;0 6.257 True ENSG00000174804 ENSG00000174804 HGNC:4042 GNAT1 gene GNAT1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Night blindness, congenital stationary, autosomal dominant 3, 610444 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000114349 ENSG00000114349 HGNC:4393 GNAT2 gene GNAT2 Expert Review Green;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Achromatopsia 4 MIM#613856 Abnormal retinal morphology;HP:0000479 32203983;17251445 False 3 100;0;0 6.257 True ENSG00000134183 ENSG00000134183 HGNC:4394 GNB3 gene GNB3 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary, type 1H, MIM# 617024 Abnormal retinal morphology;HP:0000479 27063057;17065478 False 3 100;0;0 6.257 True ENSG00000111664 ENSG00000111664 HGNC:4400 GNPTG gene GNPTG Expert Review Green;RetNet;Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Mucolipidosis III gamma;Genetic Retinal Degeneration Conditions Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000090581 ENSG00000090581 HGNC:23026 GPATCH11 gene GPATCH11 Expert Review Green;Other Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, GPATCH11-related;Leber congenital amaurosis and developmental delay Abnormal retinal morphology;HP:0000479 39572588 False 3 100;0;0 6.257 True ENSG00000152133 ENSG00000152133 HGNC:26768 GPR179 gene GPR179 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 Abnormal retinal morphology;HP:0000479 22325361 False 3 100;0;0 6.257 True ENSG00000188888 ENSG00000277399 HGNC:31371 GRK1 gene GRK1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Oguchi disease-2, 613411 Abnormal retinal morphology;HP:0000479 17070587;33252155 False 3 100;0;0 6.257 True ENSG00000185974 ENSG00000185974 HGNC:10013 GRM6 gene GRM6 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 Abnormal retinal morphology;HP:0000479 22008250 False 3 100;0;0 6.257 True ENSG00000113262 ENSG00000113262 HGNC:4598 GRN gene GRN Expert Review Green;Expert Review Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 11, OMIM #614706 Abnormal retinal morphology;HP:0000479 31855245;28404863;30922528 False 3 100;0;0 6.257 True ENSG00000030582 ENSG00000030582 HGNC:4601 GUCA1A gene GUCA1A Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cone dystrophy-3, MIM# 602093;Cone-rod dystrophy 14, MIM# 602093 Abnormal retinal morphology;HP:0000479 30679166;9425234;15953638;11146732;28125083 False 3 100;0;0 6.257 True ENSG00000048545 ENSG00000048545 HGNC:4678 GUCY2D gene GUCY2D Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Achromatopsia, Cone, and Cone-rod Dystrophy;Cone-rod dystrophy 6 (AD);Leber congenital amaurosis 1, 204000;Retinitis pigmentosa Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000132518 ENSG00000132518 HGNC:4689 GUCY2D gene GUCY2D Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cone-rod dystrophy 6 MIM#601777 Abnormal retinal morphology;HP:0000479 30679166 False 3 0;0;0 6.257 False ENSG00000132518 ENSG00000132518 HGNC:4689 GZF1 gene GZF1 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joint laxity, short stature, and myopia, MIM# 617662 Abnormal retinal morphology;HP:0000479 33009817;28475863 False 3 100;0;0 6.257 True ENSG00000125812 ENSG00000125812 HGNC:15808 HCCS gene HCCS Expert Review Green;Expert list Retinal Disorders Superpanel Ophthalmological disorders Other "Linear skin defects with multiple congenital anomalies 1, MIM# 309801" Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 True ENSG00000004961 ENSG00000004961 HGNC:4837 HGSNAT gene HGSNAT Expert Review Green;RetNet;Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 73 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000165102 ENSG00000165102 HGNC:26527 HGSNAT gene HGSNAT Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 73 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000165102 ENSG00000165102 HGNC:26527 HIKESHI gene HIKESHI Expert Review Green;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Leukodystrophy, hypomyelinating, 13, MIM# 616881" Abnormal retinal morphology;HP:0000479 34111619;26545878 False 3 100;0;0 6.257 True ENSG00000149196 ENSG00000149196 HGNC:26938 HK1 gene HK1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 79, MIM# 617460 Abnormal retinal morphology;HP:0000479 25316723;25190649;31621442;32814480 False 3 100;0;0 6.257 True ENSG00000156515 ENSG00000156515 HGNC:4922 HMX1 gene HMX1 Expert Review Green;RetNet Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Oculoauricular syndrome, MIM#612109 Abnormal retinal morphology;HP:0000479 18423520;25574057;33465110;32552830;31691317 False 3 100;0;0 6.257 True ENSG00000215612 ENSG00000215612 HGNC:5017 IDH3A gene IDH3A Expert Review Green;NHS GMS;NHS GMS Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa, MIM#619007;Leber congenital amaurosis Abnormal retinal morphology;HP:0000479 31012789;30478029;30058936;28412069 False 3 100;0;0 6.257 True ENSG00000166411 ENSG00000166411 HGNC:5384 IDH3B gene IDH3B Expert Review Green;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 46, 612572 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000101365 ENSG00000101365 HGNC:5385 IFT140 gene IFT140 Expert Review Green;RetNet;Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 80 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000187535 ENSG00000187535 HGNC:29077 IFT140 gene IFT140 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 80, MIM# 617781 Abnormal retinal morphology;HP:0000479 26216056;26968735 False 3 100;0;0 6.257 True ENSG00000187535 ENSG00000187535 HGNC:29077 IFT172 gene IFT172 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 71, MIM#616394 Abnormal retinal morphology;HP:0000479 25168386;29659833 False 3 100;0;0 6.257 True ENSG00000138002 ENSG00000138002 HGNC:30391 IFT172 gene IFT172 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 20, MIM# 619471 Abnormal retinal morphology;HP:0000479 30761183;26763875;25168386 False 3 100;0;0 6.257 True ENSG00000138002 ENSG00000138002 HGNC:30391 IFT27 gene IFT27 Expert Review Green;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 19, MIM#615996 Abnormal retinal morphology;HP:0000479 24488770;30761183;26763875;25443296 False 3 100;0;0 6.257 True ENSG00000100360 ENSG00000100360 HGNC:18626 IFT74 gene IFT74 Expert Review Green;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 20, MIM# 617119 Abnormal retinal morphology;HP:0000479 27486776;32144365 False 3 100;0;0 6.257 True ENSG00000096872 ENSG00000096872 HGNC:21424 IKBKG gene IKBKG Expert Review Green;Expert list Retinal Disorders Superpanel Ophthalmological disorders Other "Incontinentia pigmenti, MIM# 308300" Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 True ENSG00000073009 ENSG00000269335 HGNC:5961 IMPDH1 gene IMPDH1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 10, 180105;Leber Congenital Amaurosis;Leber congenital amaurosis 11 Abnormal retinal morphology;HP:0000479 16384941 False 3 100;0;0 6.257 True ENSG00000106348 ENSG00000106348 HGNC:6052 IMPG1 gene IMPG1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Macular dystrophy, vitelliform, 4, OMIM:616151;Retinitis pigmentosa, MONDO:0019200 Abnormal retinal morphology;HP:0000479 23993198;28644393;30589393;30688845;32817297 False 3 100;0;0 6.257 True ENSG00000112706 ENSG00000112706 HGNC:6055 IMPG1 gene IMPG1 Expert Review Green;Literature Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa, MONDO:0019200 Abnormal retinal morphology;HP:0000479 32817297 False 3 100;0;0 6.257 True ENSG00000112706 ENSG00000112706 HGNC:6055 IMPG2 gene IMPG2 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 56, 613581;Maculopathy, IMPG2 - related;Retinitis pigmentosa Abnormal retinal morphology;HP:0000479 32242237 False 3 100;0;0 6.257 True ENSG00000081148 ENSG00000081148 HGNC:18362 IMPG2 gene IMPG2 Royal Melbourne Hospital;Expert Review Green Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 56;Maculopathy, IMPG2 - related Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000081148 ENSG00000081148 HGNC:18362 INPP5E gene INPP5E Expert Review Green;RetNet;Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000148384 ENSG00000148384 HGNC:21474 INTS11 gene INTS11 Expert Review Green;Expert Review Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, MIM# 620428 Abnormal retinal morphology;HP:0000479 37054711 False 3 100;0;0 6.257 True ENSG00000127054 ENSG00000127054 HGNC:26052 IQCB1 gene IQCB1 Expert Review Green;RetNet Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis;Senior-Loken syndrome 5, MIM# 609254;MONDO:0012225 Abnormal retinal morphology;HP:0000479 15723066;21220633;20881296;21901789;33512896;33535056;29219953 False 3 100;0;0 6.257 True ENSG00000173226 ENSG00000173226 HGNC:28949 JAG1 gene JAG1 Expert Review Green;Literature;RetNet;Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders Unknown Abnormal retinal morphology;HP:0000479 False 3 50;50;0 6.257 False ENSG00000101384 ENSG00000101384 HGNC:6188 KCNJ13 gene KCNJ13 Expert Review Green;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 16 MIM#614186 Abnormal retinal morphology;HP:0000479 25921210;21763485 False 3 100;0;0 6.257 True ENSG00000115474 ENSG00000115474 HGNC:6259 KCNV2 gene KCNV2 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinal cone dystrophy 3B MIM#610356 Abnormal retinal morphology;HP:0000479 30679166;16909397;18235024;21882291;23221069;31960170;34535971;34652420 False 3 100;0;0 6.257 True ENSG00000168263 ENSG00000168263 HGNC:19698 KIAA1549 gene KIAA1549 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 86 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000122778 ENSG00000122778 HGNC:22219 KIF11 gene KIF11 Expert Review Green;RetNet Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950;MONDO:0007918 Abnormal retinal morphology;HP:0000479 22284827;25115524;25124931;27212378;32730767;31993640;25996076 False 3 100;0;0 6.257 True ENSG00000138160 ENSG00000138160 HGNC:6388 KIF11 gene KIF11 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, MIM# 152950 Abnormal retinal morphology;HP:0000479 22284827 False 3 100;0;0 6.257 True ENSG00000138160 ENSG00000138160 HGNC:6388 KIF5A gene KIF5A Expert Review Green;Literature Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted myoclonus, intractable, neonatal MONDO:0014979;Leber hereditary optic neuropathy MONDO:0010788 Abnormal retinal morphology;HP:0000479 35921593;27463701 False 3 100;0;0 6.257 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000155980 ENSG00000155980 HGNC:6323 KIZ gene KIZ Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 69, MIM# 615780 Abnormal retinal morphology;HP:0000479 24680887;31556760;29057815 False 3 100;0;0 6.257 True ENSG00000088970 ENSG00000088970 HGNC:15865 KLC2 gene KLC2 Expert Review Green;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia, optic atrophy, and neuropathy MIM#609541 Abnormal retinal morphology;HP:0000479 26385635 False 3 100;0;0 6.257 True ENSG00000174996 ENSG00000174996 HGNC:20716 KLHL7 gene KLHL7 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinitis pigmentosa 42, 612943 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000122550 ENSG00000122550 HGNC:15646 LAMA1 gene LAMA1 Expert Review Green;RetNet Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Poretti-Boltshauser syndrome, MIM# 615960 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 True ENSG00000101680 ENSG00000101680 HGNC:6481 LCA5 gene LCA5 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 5, 604537 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000135338 ENSG00000135338 HGNC:31923 LETM1 gene LETM1 Expert Review Green;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089 Abnormal retinal morphology;HP:0000479 36055214 False 3 100;0;0 6.257 True ENSG00000168924 ENSG00000168924 HGNC:6556 LRAT gene LRAT Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber Congenital Amaurosis;Leber congenital amaurosis 14;Retinitis pigmentosa, juvenile;Retinal dystrophy, early-onset severe, 613341 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000121207 ENSG00000121207 HGNC:6685 LRIT3 gene LRIT3 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 Abnormal retinal morphology;HP:0000479 23246293;24598786;31578364;27428514 False 3 100;0;0 6.257 True ENSG00000183423 ENSG00000183423 HGNC:24783 LRP2 gene LRP2 Expert Review Green;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Donnai-Barrow syndrome MIM#222448 Abnormal retinal morphology;HP:0000479 17632512 False 3 100;0;0 6.257 True ENSG00000081479 ENSG00000081479 HGNC:6694 LRP5 gene LRP5 RetNet;Expert Review Green Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Exudative vitreoretinopathy 4 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000162337 ENSG00000162337 HGNC:6697 LRP5 gene LRP5 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Exudative vitreoretinopathy 4, MIM# 601813 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 True ENSG00000162337 ENSG00000162337 HGNC:6697 LZTFL1 gene LZTFL1 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 17 (MIM#615994) Abnormal retinal morphology;HP:0000479 22510444;23692385;27312011;22072986 False 3 100;0;0 6.257 True ENSG00000163818 ENSG00000163818 HGNC:6741 MAK gene MAK Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 62, 614181 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000111837 ENSG00000111837 HGNC:6816 MAN2B1 gene MAN2B1 Expert Review Green;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Mannosidosis, alpha-, types I and II, MIM# 248500" Abnormal retinal morphology;HP:0000479 29859105 False 3 100;0;0 6.257 True ENSG00000104774 ENSG00000104774 HGNC:6826 MCOLN1 gene MCOLN1 Expert Review Green;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Mucolipidosis IV, MIM# 252650;MONDO:0009653 Abnormal retinal morphology;HP:0000479 17239335;25156245;35205297 False 3 100;0;0 6.257 True ENSG00000090674 ENSG00000090674 HGNC:13356 MECR gene MECR Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Optic atrophy 16, MIM# 620629 Abnormal retinal morphology;HP:0000479 27817865;31137067 False 3 100;0;0 6.257 True ENSG00000116353 ENSG00000116353 HGNC:19691 MED12 gene MED12 Expert Review Green;Literature Retinal Disorders Superpanel Ophthalmological disorders Other Hardikar syndrome, MIM# 301068 Abnormal retinal morphology;HP:0000479 PMID: 33244166 False 3 100;0;0 6.257 True ENSG00000184634 ENSG00000184634 HGNC:11957 MERTK gene MERTK Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 38, MIM# 613862 Abnormal retinal morphology;HP:0000479 11062461;17301963;20300561;22180149 False 3 100;0;0 6.257 True ENSG00000153208 ENSG00000153208 HGNC:7027 MFF gene MFF Expert Review Green;Expert Review Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy due to defective mitochondrial and peroxisomal fission 2 Abnormal retinal morphology;HP:0000479 PMID: 26783368;22499341;30581454 False 3 100;0;0 6.257 True ENSG00000168958 ENSG00000168958 HGNC:24858 MFN2 gene MFN2 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal 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 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 True ENSG00000116688 ENSG00000116688 HGNC:16877 MFRP gene MFRP Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000235718 ENSG00000235718 HGNC:18121 MFSD8 gene MFSD8 Expert Review Green;Expert Review Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 7 OMIM #610951 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 True ENSG00000164073 ENSG00000164073 HGNC:28486 MFSD8 gene MFSD8 Royal Melbourne Hospital;Expert Review Green Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 7, 610951;Macular dystrophy with central cone involvement, 616170 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000164073 ENSG00000164073 HGNC:28486 MKKS gene MKKS Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 6 (MIM#605231) Abnormal retinal morphology;HP:0000479 10973251 False 3 100;0;0 6.257 True ENSG00000125863 ENSG00000125863 HGNC:7108 MKS1 gene MKS1 Expert Review Green;RetNet;Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000011143 ENSG00000011143 HGNC:7121 MKS1 gene MKS1 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 13, MIM# 615990;MONDO:0014441 Abnormal retinal morphology;HP:0000479 18327255;24608809 False 3 100;0;0 6.257 True ENSG00000011143 ENSG00000011143 HGNC:7121 MMACHC gene MMACHC Expert Review Green;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Methylmalonic aciduria and homocystinuria, cblC type MIM#277400" Abnormal retinal morphology;HP:0000479 28481040 False 3 100;0;0 6.257 True ENSG00000132763 ENSG00000132763 HGNC:24525 MORC2 gene MORC2 Expert Review Green;Literature Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090 Abnormal retinal morphology;HP:0000479 32693025 False 3 50;0;50 6.257 True ENSG00000133422 ENSG00000133422 HGNC:23573 MSTO1 gene MSTO1 Expert Review Green;Expert Review Green;Expert list;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, mitochondrial, and ataxia MIM#617675 Abnormal retinal morphology;HP:0000479 29339779;28544275 False 3 100;0;0 6.257 True ENSG00000125459 ENSG00000125459 HGNC:29678 MTTP gene MTTP Expert Review Green;RetNet Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Abetalipoproteinemia, MIM# 200100 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 True ENSG00000138823 ENSG00000138823 HGNC:7467 MYO7A gene MYO7A Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 1B, 276900 Abnormal retinal morphology;HP:0000479 23559863;18181211;25211151;11391666 False 3 100;0;0 6.257 True ENSG00000137474 ENSG00000137474 HGNC:7606 NBAS gene NBAS Expert Review Green;Expert Review Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Short stature, optic nerve atrophy, and Pelger-Huet anomaly Abnormal retinal morphology;HP:0000479 PMID: 20577004;26286438 False 3 100;0;0 6.257 True ENSG00000151779 ENSG00000151779 HGNC:15625 NDP gene NDP Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Exudative vitreoretinopathy 2, X-linked, MIM# 305390;Norrie disease, MIM# 310600 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 True ENSG00000124479 ENSG00000124479 HGNC:7678 NDUFA12 gene NDUFA12 Expert Review Green;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal isolated optic atrophy;MONDO:0003608 Abnormal retinal morphology;HP:0000479 PMID: 35141356 False 3 100;0;0 6.257 True ENSG00000184752 ENSG00000184752 HGNC:23987 NDUFS2 gene NDUFS2 Expert Review Green;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228;Leber hereditary optic neuropathy, autosomal recessive 2, MIM# 620569 Abnormal retinal morphology;HP:0000479 28031252;31411514;22036843;20819849;11220739;23266820;31411514 False 3 100;0;0 6.257 True ENSG00000158864 ENSG00000158864 HGNC:7708 NEUROD1 gene NEUROD1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa;Retinopathy;Permanent neonatal diabetes Abnormal retinal morphology;HP:0000479 25477324;29521454;25684977 False 3 100;0;0 6.257 True ENSG00000162992 ENSG00000162992 HGNC:7762 NMNAT1 gene NMNAT1 Expert Review Green;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Leber congenital amaurosis 9 MIM#608553" Abnormal retinal morphology;HP:0000479 22842230;17132048 False 3 100;0;0 6.257 True ENSG00000173614 ENSG00000173614 HGNC:17877 NPHP1 gene NPHP1 Expert Review Green;RetNet;Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP3 gene NPHP3 Expert Review Green;RetNet;Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Abnormal retinal morphology;HP:0000479 False 3 50;0;50 6.257 False ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP4 gene NPHP4 Expert Review Green;RetNet;Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000131697 ENSG00000131697 HGNC:19104 NR2E3 gene NR2E3 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Enhanced S - cone syndrome (AR);Retinitis pigmentosa 37 (AD and AR) Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000031544 ENSG00000278570 HGNC:7974 NR2E3 gene NR2E3 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Enhanced S-cone syndrome, MIM# 268100 Abnormal retinal morphology;HP:0000479 10655056;11071390;18294254 False 3 100;0;0 6.257 True ENSG00000031544 ENSG00000278570 HGNC:7974 NR2E3 gene NR2E3 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Enhanced S - cone syndrome (AR);Retinitis pigmentosa 37 (AD and AR) Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000031544 ENSG00000278570 HGNC:7974 NR2F1 gene NR2F1 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722 Abnormal retinal morphology;HP:0000479 32275123 False 3 100;0;0 6.257 True ENSG00000175745 ENSG00000175745 HGNC:7975 NRL gene NRL Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 27 (AD);Retinal degeneration, autosomal recessive, clumped pigment type (AR) Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000129535 ENSG00000129535 HGNC:8002 NRL gene NRL Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 27, 613750 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000129535 ENSG00000129535 HGNC:8002 NYX gene NYX Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Night blindness, congenital stationary (complete), 1A, X-linked, 310500 Abnormal retinal morphology;HP:0000479 11062471;11062472;16670814;23714322;34064005;34165036 False 3 100;0;0 6.257 True ENSG00000188937 ENSG00000188937 HGNC:8082 OAT gene OAT Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Gyrate atrophy of choroid and retina Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 True ENSG00000065154 ENSG00000065154 HGNC:8091 OFD1 gene OFD1 Expert Review Green;Expert Review Green;RetNet;Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Retinitis pigmentosa 23, 300424;Orofaciodigital syndrome I, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209;Joubert syndrome 10, 300804 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000046651 ENSG00000046651 HGNC:2567 OFD1 gene OFD1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Retinitis pigmentosa 23, 300424;Joubert syndrome 10, 300804;Orofaciodigital syndrome I, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209 Abnormal retinal morphology;HP:0000479 28191358;22619378;29843741 False 3 0;0;0 6.257 False ENSG00000046651 ENSG00000046651 HGNC:2567 OPA1 gene OPA1 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Optic atrophy 1 165500;Optic atrophy plus syndrome, MIM# 125250;Behr syndrome, MIM# 210000 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 True ENSG00000198836 ENSG00000198836 HGNC:8140 OPA3 gene OPA3 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR;Optic atrophy 3 with cataract (MIM#165300), AD Abnormal retinal morphology;HP:0000479 25159689;31119193;31928268 False 3 100;0;0 6.257 True Other ENSG00000125741 ENSG00000125741 HGNC:8142 OPA3 gene OPA3 Expert Review Green;RetNet;Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autosomal Dominant Optic Atrophy Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000125741 ENSG00000125741 HGNC:8142 OPN1SW gene OPN1SW Expert Review Green;Expert list Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Colorblindness, tritan MIM#190900 Abnormal retinal morphology;HP:0000479 22065927;1531728 False 3 100;0;0 6.257 True ENSG00000128617 ENSG00000128617 HGNC:1012 OTX2 gene OTX2 Royal Melbourne Hospital;Expert Review Green Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown autosomal-dominant pattern dystrophy of the retinal pigment epithelium;early onset retinal dystrophy;Microphthalmia, syndromic 5, 610125 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000165588 ENSG00000165588 HGNC:8522 P3H2 gene P3H2 Expert Review Green;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Myopia, high, with cataract and vitreoretinal degeneration MIM#614292 Abnormal retinal morphology;HP:0000479 21885030;24172257;25469533 False 3 100;0;0 6.257 True ENSG00000090530 ENSG00000090530 HGNC:19317 PANK2 gene PANK2 RetNet;Expert Review Green Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal HARP syndrome;Neurodegeneration with brain iron accumulation 1 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000125779 ENSG00000125779 HGNC:15894 PAX2 gene PAX2 Expert Review Green;RetNet Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Papillorenal syndrome, MIM# 120330 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 True ENSG00000075891 ENSG00000075891 HGNC:8616 PAX6 gene PAX6 Expert Review Green;Expert list Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Foveal hypoplasia 1 MIM#136520 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 True ENSG00000007372 ENSG00000007372 HGNC:8620 PCDH15 gene PCDH15 Expert Review Green;Royal Melbourne Hospital;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome Type 1F;Usher syndrome, type 1D/F digenic Abnormal retinal morphology;HP:0000479 11398101;11487575;11138007;12782354;16260500;14570705;25930172;28281779 False 3 100;0;0 6.257 True ENSG00000150275 ENSG00000150275 HGNC:14674 PCYT1A gene PCYT1A Expert Review Green;RetNet Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 Abnormal retinal morphology;HP:0000479 24387990;24387991 False 3 100;0;0 6.257 True ENSG00000161217 ENSG00000161217 HGNC:8754 PDE6A gene PDE6A Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 43, 613810 Abnormal retinal morphology;HP:0000479 35033039;34926197;18849587;21039428;17110911;7493036 False 3 100;0;0 6.257 True ENSG00000132915 ENSG00000132915 HGNC:8785 PDE6B gene PDE6B Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Night blindness, congenital stationary, autosomal dominant 2, 163500;Retinitis pigmentosa Abnormal retinal morphology;HP:0000479 17044014;24760071;8075643 False 3 100;0;0 6.257 True ENSG00000133256 ENSG00000133256 HGNC:8786 PDE6B gene PDE6B Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 40;Night blindness, congenital stationary, autosomal dominant 2 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000133256 ENSG00000133256 HGNC:8786 PDE6B gene PDE6B Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Night blindness, congenital stationary, autosomal dominant 2, 163500;Retinitis pigmentosa 40 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000133256 ENSG00000133256 HGNC:8786 PDE6C gene PDE6C Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone dystrophy 4 MIM#613093 Abnormal retinal morphology;HP:0000479 30679166 False 3 0;0;0 6.257 False ENSG00000095464 ENSG00000095464 HGNC:8787 PDE6C gene PDE6C Expert Review Green;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Achromatopsia-5;Cone dystrophy 4, MIM# 613093 Abnormal retinal morphology;HP:0000479 19615668;30080950 False 3 100;0;0 6.257 True ENSG00000095464 ENSG00000095464 HGNC:8787 PDE6H gene PDE6H Expert Review Green;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Achromatopsia 6 MIM#610024 Abnormal retinal morphology;HP:0000479 22901948 False 3 100;0;0 6.257 True ENSG00000139053 ENSG00000139053 HGNC:8790 PDXK gene PDXK Expert Review Green;Literature;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Axonal polyneuropathy;optic atrophy Abnormal retinal morphology;HP:0000479 32522499;31187503;27604308 False 3 50;50;0 6.257 True ENSG00000160209 ENSG00000160209 HGNC:8819 PEX1 gene PEX1 RetNet;Expert Review Green Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Heimler syndrome 1, 234580 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000127980 ENSG00000127980 HGNC:8850 PEX1 gene PEX1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Heimler syndrome 1, 234580 Abnormal retinal morphology;HP:0000479 32596134;31831025;27872819;27633571;27302843 False 3 100;0;0 6.257 True ENSG00000127980 ENSG00000127980 HGNC:8850 PEX2 gene PEX2 RetNet;Expert Review Green Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 Expert Review Green;Expert Review Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Heimler syndrome Abnormal retinal morphology;HP:0000479 28944237;33926089;28944237 False 3 100;0;0 6.257 True ENSG00000215193 ENSG00000215193 HGNC:22965 PEX6 gene PEX6 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Heimler syndrome 2, 616617 Abnormal retinal morphology;HP:0000479 27302843;32866347;31884617;29676688;26387595 False 3 100;0;0 6.257 True ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 Expert Review Green;RetNet;Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Refsum disease Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000112357 ENSG00000112357 HGNC:8860 PHYH gene PHYH Expert Review Green;RetNet;Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Refsum disease Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000107537 ENSG00000107537 HGNC:8940 PLA2G5 gene PLA2G5 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal [Fleck retina, familial benign], MIM# 228980 Abnormal retinal morphology;HP:0000479 22137173 False 3 100;0;0 6.257 True ENSG00000127472 ENSG00000127472 HGNC:9038 PLK4 gene PLK4 Expert Review Green;RetNet Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171 Abnormal retinal morphology;HP:0000479 25344692;25320347;27650967 False 3 100;0;0 6.257 True ENSG00000142731 ENSG00000142731 HGNC:11397 PLOD3 gene PLOD3 Expert Review Green;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Stickler-like phenotype with high myopia, midface hypoplasia, microretrognathia Abnormal retinal morphology;HP:0000479 18834968;30237576;30463024;31129566 False 3 100;0;0 6.257 True ENSG00000106397 ENSG00000106397 HGNC:9083 PNPLA6 gene PNPLA6 Expert Review Green;Expert list;RetNet;Expert Review Green;Expert Review Green;Expert list Retinal Disorders Superpanel Ophthalmological disorders Unknown Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000032444 ENSG00000032444 HGNC:16268 POC1B gene POC1B Expert list;RetNet;Expert Review Green Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 20, 615973 Abnormal retinal morphology;HP:0000479 False 3 50;0;50 6.257 False ENSG00000139323 ENSG00000139323 HGNC:30836 POC1B gene POC1B Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 20, 615973 Abnormal retinal morphology;HP:0000479 30679166 False 3 0;0;0 6.257 False ENSG00000139323 ENSG00000139323 HGNC:30836 POLA2 gene POLA2 Expert Review Green;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Telomere biology syndrome MONDO:0100137 Abnormal retinal morphology;HP:0000479 39616267 False 3 100;0;0 6.257 True ENSG00000014138 ENSG00000014138 HGNC:30073 POMGNT1 gene POMGNT1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 76, MIM#617123 Abnormal retinal morphology;HP:0000479 27391550;26908613 False 3 100;0;0 6.257 True ENSG00000085998 ENSG00000085998 HGNC:19139 PPP2R3C gene PPP2R3C Expert Review Green;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM # 618419 Abnormal retinal morphology;HP:0000479 30893644;34714774;34750818 False 3 100;0;0 6.257 True ENSG00000092020 ENSG00000092020 HGNC:17485 PPT1 gene PPT1 Expert Review Green;Expert Review Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 1, MIM#256730 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 True ENSG00000131238 ENSG00000131238 HGNC:9325 PQLC2 gene PQLC2 Expert Review Green;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa, MONDO:0019200, PQLC2-related Abnormal retinal morphology;HP:0000479 PMID: 35486108;and online publication GiM Open Feb 2024 False 3 100;0;0 6.257 True ENSG00000040487 ENSG00000040487 HGNC:26001 PRCD gene PRCD Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 36, MIM# 610599 Abnormal retinal morphology;HP:0000479 16938425;20507925;33087780;31640229;31189593;26497376 False 3 100;0;0 6.257 True ENSG00000214140 ENSG00000214140 HGNC:32528 PRDM13 gene PRDM13 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Macular dystrophy, North Carolina type, MIM#136550;Retinal dystrophy;Chorioretinal atrophy, progressive bifocal, MIM# 600790 Abnormal retinal morphology;HP:0000479 29258872;28973654;26507665;30710461 False 3 100;0;0 6.257 True Other ENSG00000112238 ENSG00000112238 HGNC:13998 PROM1 gene PROM1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Stargardt disease 4, 603786;Macular dystrophy, retinal, 2, 608051;Retinitis pigmentosa 41, 612095;Cone-rod dystrophy 12, 612657 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000007062 ENSG00000007062 HGNC:9454 PROM1 gene PROM1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cone-rod dystrophy 12, 612657 Abnormal retinal morphology;HP:0000479 30679166 False 3 0;0;0 6.257 False ENSG00000007062 ENSG00000007062 HGNC:9454 PROM1 gene PROM1 Royal Melbourne Hospital;Expert Review Green Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 41, 612095;Cone-rod dystrophy 12, 612657;Stargardt disease 4, 603786;Macular dystrophy, retinal, 2, 608051 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000007062 ENSG00000007062 HGNC:9454 PRPF3 gene PRPF3 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 18, MIM# 601414 Abnormal retinal morphology;HP:0000479 11773002;27886254 False 3 100;0;0 6.257 True ENSG00000117360 ENSG00000117360 HGNC:17348 PRPF31 gene PRPF31 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 11, 600138 Abnormal retinal morphology;HP:0000479 32014492 False 3 100;0;0 6.257 True ENSG00000105618 ENSG00000105618 HGNC:15446 PRPF4 gene PRPF4 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 70, MIM# 615922 Abnormal retinal morphology;HP:0000479 24419317;25383878 False 3 100;0;0 6.257 True ENSG00000136875 ENSG00000136875 HGNC:17349 PRPF8 gene PRPF8 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinitis pigmentosa 13, 600059 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000174231 ENSG00000174231 HGNC:17340 PRPH2 gene PRPH2 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 7 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000112619 ENSG00000112619 HGNC:9942 PRPH2 gene PRPH2 Royal Melbourne Hospital;Expert Review Green Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Leber congenital amaurosis 18, MIM#608133;Macular dystrophy, vitelliform, 3, MIM#608161;Retinitis pigmentosa 7 and digenic form, MIM#608133;Choroidal dystrophy, central areolar 2, MIM#613105;Macular dystrophy, patterned, 1, MIM#169150;Retinitis punctata albescens, MIM#136880 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000112619 ENSG00000112619 HGNC:9942 PRPH2 gene PRPH2 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Choroidal dystrophy, central areolar 2 MIM#613105 Abnormal retinal morphology;HP:0000479 30679166 False 3 0;0;0 6.257 False ENSG00000112619 ENSG00000112619 HGNC:9942 PRPS1 gene PRPS1 Expert Review Green;Expert Review;Expert Review Green;RetNet;Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000147224 ENSG00000147224 HGNC:9462 PTCD3 gene PTCD3 Expert Review Green;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency-51, MIM#619057;Intellectual disability;optic atrophy;Leigh-like syndrome Abnormal retinal morphology;HP:0000479 30607703;19427859;36450274 False 3 100;0;0 6.257 True ENSG00000132300 ENSG00000132300 HGNC:24717 RAB28 gene RAB28 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 18, 615374 Abnormal retinal morphology;HP:0000479 30679166;25356532;33396523;32084271;23746546 False 3 100;0;0 6.257 True ENSG00000157869 ENSG00000157869 HGNC:9768 RAX2 gene RAX2 Expert Review Green;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa-95 (RP95), MIM#620102 Abnormal retinal morphology;HP:0000479 30607024 False 3 100;0;0 6.257 True ENSG00000173976 ENSG00000173976 HGNC:18286 RAX2 gene RAX2 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cone-rod dystrophy 11, MIM# 610381 Abnormal retinal morphology;HP:0000479 30679166;15028672;25789692 False 3 100;0;0 6.257 True ENSG00000173976 ENSG00000173976 HGNC:18286 RBP3 gene RBP3 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 66, 615233 Abnormal retinal morphology;HP:0000479 19074801;25766589;19357286;9614228 False 3 100;0;0 6.257 True ENSG00000107618 ENSG00000265203 HGNC:9921 RBP4 gene RBP4 Expert Review Green;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy, iris coloboma, and comedogenic acne syndrome MIM#615147 Abnormal retinal morphology;HP:0000479 23189188;9888420;32323592 False 3 100;0;0 6.257 True ENSG00000138207 ENSG00000138207 HGNC:9922 RCBTB1 gene RCBTB1 Expert Review Green;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy with or without extraocular anomalies MIM#617175 Abnormal retinal morphology;HP:0000479 27486781 False 3 100;0;0 6.257 True ENSG00000136144 ENSG00000136144 HGNC:18243 RD3 gene RD3 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 12, 610612 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000198570 ENSG00000198570 HGNC:19689 RDH12 gene RDH12 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Leber congenital amaurosis 13, 612712;Retinitis Pigmentosa Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000139988 ENSG00000139988 HGNC:19977 RDH12 gene RDH12 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 13, 612712;Retinitis Pigmentosa, Recessive Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000139988 ENSG00000139988 HGNC:19977 RDH12 gene RDH12 Royal Melbourne Hospital;Expert Review Green Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Leber congenital amaurosis 13, 612712 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000139988 ENSG00000139988 HGNC:19977 RDH5 gene RDH5 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Fundus albipunctatus (MIM#136880);Congenital Stationary Night Blindness Abnormal retinal morphology;HP:0000479 15790919;14718298;11812441;10369264;32232344 False 3 100;0;0 6.257 True ENSG00000135437 ENSG00000135437 HGNC:9940 REEP6 gene REEP6 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 77 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000115255 ENSG00000115255 HGNC:30078 RGS9 gene RGS9 Expert Review Green;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bradyopsia MIM#608415 Abnormal retinal morphology;HP:0000479 14702087;10676965;29107794 False 3 100;0;0 6.257 True ENSG00000108370 ENSG00000108370 HGNC:10004 RGS9BP gene RGS9BP Expert Review Green;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bradyopsia MIM#608415 Abnormal retinal morphology;HP:0000479 14702087;19818506 False 3 100;0;0 6.257 True ENSG00000186326 ENSG00000186326 HGNC:30304 RHO gene RHO Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis punctata albescens;Retinitis pigmentosa;Night blindness, congenital stationary autosomal dominant 1 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000163914 ENSG00000163914 HGNC:10012 RHO gene RHO Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 4, autosomal dominant or recessive, 613731;Retinitis punctata albescens;Congenital Stationary Night Blindness Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000163914 ENSG00000163914 HGNC:10012 RHO gene RHO Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 4, autosomal dominant or recessive, 613731;Congenital Stationary Night Blindness Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000163914 ENSG00000163914 HGNC:10012 RIMS2 gene RIMS2 Expert Review Green;Expert Review;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod synaptic disorder syndrome, congenital nonprogressive, MIM# 618970 Abnormal retinal morphology;HP:0000479 32470375 False 3 100;0;0 6.257 True ENSG00000176406 ENSG00000176406 HGNC:17283 RIMS2 gene RIMS2 Expert Review Green;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "nystagmus;retinal dysfunction;autism;night blindness;Cone-rod synaptic disorder syndrome, congenital nonprogressive , MIM#618970" Abnormal retinal morphology;HP:0000479 32470375 False 3 100;0;0 6.257 True ENSG00000176406 ENSG00000176406 HGNC:17283 RLBP1 gene RLBP1 Royal Melbourne Hospital;Expert Review Green Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Fundus albipunctatus;Newfoundland rod - cone dystrophy;Fundus albipunctatus, 136880;Bothnia retinal dystrophy;Retinitis punctata albescens Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000140522 ENSG00000140522 HGNC:10024 RLBP1 gene RLBP1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis punctata albescens;Newfoundland rod - cone dystrophy;Fundus albipunctatus, 136880;Fundus albipunctatus;Bothnia retinal dystrophy Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000140522 ENSG00000140522 HGNC:10024 RNU4ATAC gene RNU4ATAC Expert Review Green;Expert Review Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Roifman syndrome, MIM# 616651;Lowry-Wood syndrome, MIM# 226960" Abnormal retinal morphology;HP:0000479 2801768;29265708;30368667 False 3 100;0;0 6.257 True ENSG00000264229 ENSG00000264229 HGNC:34016 ROM1 gene ROM1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 7, digenic, 608133 Abnormal retinal morphology;HP:0000479 32036094;8202715;30630813;24618324;20300562;32716032 False 3 100;0;0 6.257 True ENSG00000149489 ENSG00000149489 HGNC:10254 RP1 gene RP1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 1, 180100 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000104237 ENSG00000104237 HGNC:10263 RP1 gene RP1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 1, 180100 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000104237 ENSG00000104237 HGNC:10263 RP1L1 gene RP1L1 Royal Melbourne Hospital;Expert Review Green Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Occult macular dystrophy, 613587 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000183638 ENSG00000183638 HGNC:15946 RP1L1 gene RP1L1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal retinitis pigmentosa;Occult macular dystrophy, 613587 Abnormal retinal morphology;HP:0000479 31833436;31236346;30025130 False 3 0;0;0 6.257 False ENSG00000183638 ENSG00000183638 HGNC:15946 RP2 gene RP2 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Retinitis Pigmentosa, X-linked;Retinitis pigmentosa 2, 312600 Abnormal retinal morphology;HP:0000479 9697692;10053026;10942419;11462235;12417528;8225316;26143542 False 3 100;0;0 6.257 True ENSG00000102218 ENSG00000102218 HGNC:10274 RPE65 gene RPE65 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 20;Leber congenital amaurosis 2, 204100 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000116745 ENSG00000116745 HGNC:10294 RPE65 gene RPE65 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 20;Leber congenital amaurosis 2, 204100;Leber Congenital Amaurosis;Leber congenital amaurosis 2 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000116745 ENSG00000116745 HGNC:10294 RPE65 gene RPE65 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 20;Leber congenital amaurosis 2, 204100 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000116745 ENSG00000116745 HGNC:10294 RPGR gene RPGR Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 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 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000156313 ENSG00000156313 HGNC:10295 RPGR gene RPGR Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Cone-rod dystrophy, X-linked, 1, 304020 Abnormal retinal morphology;HP:0000479 30679166 False 3 0;0;0 6.257 False ENSG00000156313 ENSG00000156313 HGNC:10295 RPGR gene RPGR Royal Melbourne Hospital;Expert Review Green Retinal Disorders Superpanel Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 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 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000156313 ENSG00000156313 HGNC:10295 RPGRIP1 gene RPGRIP1 Royal Melbourne Hospital;Expert Review Green Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 6, 613826;Cone-rod dystrophy 13, 608194 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000092200 ENSG00000092200 HGNC:13436 RPGRIP1 gene RPGRIP1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 6, 613826;Cone-rod dystrophy 13, 608194 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000092200 ENSG00000092200 HGNC:13436 RPGRIP1 gene RPGRIP1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 13, 608194 Abnormal retinal morphology;HP:0000479 30679166 False 3 0;0;0 6.257 False ENSG00000092200 ENSG00000092200 HGNC:13436 RPGRIP1L gene RPGRIP1L Expert Review Green;RetNet;Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 5;Joubert syndrome 7;COACH syndrome Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000103494 ENSG00000103494 HGNC:29168 RS1 gene RS1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Retinoschisis, MIM#312700;Developmental macular and foveal dystrophy (males with foveal schisis) Abnormal retinal morphology;HP:0000479 15932525;23453514;23847049 False 3 100;0;0 6.257 True ENSG00000102104 ENSG00000102104 HGNC:10457 RTN4IP1 gene RTN4IP1 Expert Review Green;Expert Review Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Optic atrophy 10 with or without ataxia, mental retardation, and seizures Abnormal retinal morphology;HP:0000479 PMID: 26593267;31077085 False 3 100;0;0 6.257 True ENSG00000130347 ENSG00000130347 HGNC:18647 SAG gene SAG Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Oguchi disease-1, MIM# 258100 Abnormal retinal morphology;HP:0000479 7670478;9565049;15234147 False 3 100;0;0 6.257 True ENSG00000130561 ENSG00000130561 HGNC:10521 SAMD7 gene SAMD7 Expert Review Green;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Macular dystrophy with or without cone dysfunction, MIM# 620762 Abnormal retinal morphology;HP:0000479 38272031 False 3 100;0;0 6.257 True ENSG00000187033 ENSG00000187033 HGNC:25394 SCAPER gene SCAPER Expert Review Red;Expert Review Green;Expert list;Expert Review;Expert Review Green;Expert list;Expert list;Expert Review Green;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder and retinitis pigmentosa MIM#618195 Abnormal retinal morphology;HP:0000479 28794130 False 3 50;0;50 6.257 True ENSG00000140386 ENSG00000140386 HGNC:13081 SCAPER gene SCAPER Expert Review Green;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder and retinitis pigmentosa, OMIM #618195;Bardet-Biedl syndrome Abnormal retinal morphology;HP:0000479 30723319;28794130;31069901;31192531;30723319 False 3 100;0;0 6.257 True ENSG00000140386 ENSG00000140386 HGNC:13081 SCLT1 gene SCLT1 Expert Review Green;Expert Review Green;Expert list;Expert list;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome;Senior-Loken syndrome Abnormal retinal morphology;HP:0000479 32253632;30425282 False 3 67;33;0 6.257 True ENSG00000151466 ENSG00000151466 HGNC:26406 SDCCAG8 gene SDCCAG8 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 16, MIM# 615993;MONDO:0014444 Abnormal retinal morphology;HP:0000479 20835237;22626039;22626039 False 3 100;0;0 6.257 True ENSG00000054282 ENSG00000054282 HGNC:10671 SDCCAG8 gene SDCCAG8 Expert Review Green;RetNet Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 16, MIM# 615993;MONDO:0014444;Senior-Loken syndrome 7, MIM# 613615;MONDO:0013326 Abnormal retinal morphology;HP:0000479 20835237;22626039;22626039;32432520;31534065;26968886 False 3 100;0;0 6.257 True ENSG00000054282 ENSG00000054282 HGNC:10671 SLC24A1 gene SLC24A1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000074621 ENSG00000074621 HGNC:10975 SLC25A46 gene SLC25A46 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary motor and sensory, type VIB (MIM#616505);Pontocerebellar hypoplasia, type 1E, MIM# 619303 Abnormal retinal morphology;HP:0000479 26168012;28376086 False 3 100;0;0 6.257 True ENSG00000164209 ENSG00000164209 HGNC:25198 SLC25A46 gene SLC25A46 Expert Review Green;RetNet;Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders Unknown Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000164209 ENSG00000164209 HGNC:25198 SLC37A3 gene SLC37A3 Expert Review Green;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa, MONDO:0019200, SLC37A3-related Abnormal retinal morphology;HP:0000479 28041643;35486108 False 3 100;0;0 6.257 True ENSG00000157800 ENSG00000157800 HGNC:20651 SLC38A8 gene SLC38A8 Expert Review Green;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormal retinal morphology;HP:0000479 24045842;24290379;32744312 False 3 100;0;0 6.257 True ENSG00000166558 ENSG00000166558 HGNC:32434 SLC44A1 gene SLC44A1 Expert Review Green;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Childhood onset degeneration;progressive ataxia;tremor;cognitive decline;dysphagia;optic atrophy;dysarthria Abnormal retinal morphology;HP:0000479 31855247 False 3 100;0;0 6.257 True ENSG00000070214 ENSG00000070214 HGNC:18798 SLC52A2 gene SLC52A2 Expert Review Green;Expert Review Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 2 Abnormal retinal morphology;HP:0000479 PMID: 22864630;29961509;30377535;29287867 False 3 100;0;0 6.257 True ENSG00000185803 ENSG00000185803 HGNC:30224 SNRNP200 gene SNRNP200 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinitis pigmentosa 33, 610359 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000144028 ENSG00000144028 HGNC:30859 SPATA7 gene SPATA7 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber Congenital Amaurosis;Retinitis pigmentosa, juvenile, autosomal recessive, 604232;Leber congenital amaurosis 3 Abnormal retinal morphology;HP:0000479 31908400;32799588 False 3 100;0;0 6.257 True ENSG00000042317 ENSG00000042317 HGNC:20423 SPG7 gene SPG7 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autosomal dominant optical atrophy Abnormal retinal morphology;HP:0000479 32548275 False 3 100;0;0 6.257 True ENSG00000197912 ENSG00000197912 HGNC:11237 SRD5A3 gene SRD5A3 Expert Review Green;Expert Review Green;Expert list;Expert list;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type Iq MIM#612379" Abnormal retinal morphology;HP:0000479 31638560 False 3 100;0;0 6.257 True ENSG00000128039 ENSG00000128039 HGNC:25812 SSBP1 gene SSBP1 Expert Review Green;NHS GMS Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Optic atrophy with or without extraocular phenotypes;Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510 Abnormal retinal morphology;HP:0000479 31298765;31479473;31550237;31550240 False 3 100;0;0 6.257 True ENSG00000106028 ENSG00000106028 HGNC:11317 STN1 gene STN1 Expert Review Green;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341 Abnormal retinal morphology;HP:0000479 27432940;32627942 False 3 100;0;0 6.257 True ENSG00000107960 ENSG00000107960 HGNC:26200 STX3 gene STX3 Expert Review Green;Expert Review Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy and microvillus inclusion disease, MIM#619446 Abnormal retinal morphology;HP:0000479 24726755;29266534;25358429;29282386;30909251;29282386 False 3 100;0;0 6.257 True ENSG00000166900 ENSG00000166900 HGNC:11438 TIMM8A gene TIMM8A Expert Review Green;RetNet;Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders Unknown Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000126953 ENSG00000126953 HGNC:11817 TIMP3 gene TIMP3 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sorsby fundus dystrophy, MIM# 136900 Abnormal retinal morphology;HP:0000479 7894485;10854443;32715858;32666594;31757977;31369189;30668888 False 3 100;0;0 6.257 True ENSG00000100234 ENSG00000100234 HGNC:11822 TINF2 gene TINF2 Expert Review Green;Expert list Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Revesz syndrome, 268130 Abnormal retinal morphology;HP:0000479 18252230;21477109;28095086;28866069;29749240;30478948 False 3 100;0;0 6.257 True ENSG00000092330 ENSG00000092330 HGNC:11824 TMEM126A gene TMEM126A Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Optic atrophy 7, MIM# 612989;MONDO:0013069 Abnormal retinal morphology;HP:0000479 19327736;20405026;22815638;33879611;31119195;30961538 False 3 100;0;0 6.257 True ENSG00000171202 ENSG00000171202 HGNC:25382 TMEM216 gene TMEM216 Expert Review Green;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa, MONDO:0019200, TMEM216-related Abnormal retinal morphology;HP:0000479 39191256 False 3 100;0;0 6.257 True ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM216 gene TMEM216 Expert Review Green;RetNet Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 2, MIM# 608091 Abnormal retinal morphology;HP:0000479 32687549;20512146 False 3 100;0;0 6.257 True ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM218 gene TMEM218 Expert Review Green;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 39, MIM#619562;retinal dystrophy;polycystic kidneys;occipital encephalocele Abnormal retinal morphology;HP:0000479 33791682;25161209 False 3 100;0;0 6.257 True ENSG00000150433 ENSG00000150433 HGNC:27344 TMEM231 gene TMEM231 Expert Review Green;Expert Review Green;Expert list;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20 MIM#614970 Abnormal retinal morphology;HP:0000479 23012439;27449316 False 3 100;0;0 6.257 True ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM237 gene TMEM237 Expert Review Green;RetNet;Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000155755 ENSG00000155755 HGNC:14432 TOPORS gene TOPORS Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinitis pigmentosa 31, 609923 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000197579 ENSG00000197579 HGNC:21653 TPP1 gene TPP1 Expert Review Green;Expert Review Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 2, OMIM #204500 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 True ENSG00000166340 ENSG00000166340 HGNC:2073 TRAF3IP1 gene TRAF3IP1 Expert Review Green;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 9, MIM# 616629;MONDO:0014712 Abnormal retinal morphology;HP:0000479 26487268;18364699;21945076 False 3 100;0;0 6.257 True ENSG00000204104 ENSG00000204104 HGNC:17861 TREX1 gene TREX1 Expert Review Green;RetNet Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vasculopathy, retinal, with cerebral leukodystrophy, MIM# 192315 Abnormal retinal morphology;HP:0000479 17660820 False 3 100;0;0 6.257 True ENSG00000213689 ENSG00000213689 HGNC:12269 TRNT1 gene TRNT1 Expert Review Green;RetNet Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa and erythrocytic microcytosis, MIM# 616959;Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084 Abnormal retinal morphology;HP:0000479 26494905;28390992;27389523 False 3 100;0;0 6.257 True ENSG00000072756 ENSG00000072756 HGNC:17341 TRNT1 gene TRNT1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa and erythrocytic microcytosis Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000072756 ENSG00000072756 HGNC:17341 TRPM1 gene TRPM1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000134160 ENSG00000134160 HGNC:7146 TSPAN12 gene TSPAN12 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Exudative vitreoretinopathy 5, MIM# 613310 Abnormal retinal morphology;HP:0000479 20159111;20159112;21334594 False 3 100;0;0 6.257 True ENSG00000106025 ENSG00000106025 HGNC:21641 TTC8 gene TTC8 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 8, MIM# 615985 Abnormal retinal morphology;HP:0000479 14520415;19797195 False 3 100;0;0 6.257 True ENSG00000165533 ENSG00000165533 HGNC:20087 TTC8 gene TTC8 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 51, 613464;Bardet-Biedl syndrome 8, 209900 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 6.257 False ENSG00000165533 ENSG00000165533 HGNC:20087 TTLL5 gene TTLL5 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 19,615860 Abnormal retinal morphology;HP:0000479 30679166 False 3 100;0;0 6.257 False ENSG00000119685 ENSG00000119685 HGNC:19963 TTPA gene TTPA Expert Review Green;NHS GMS;Expert list;RetNet;Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders Unknown Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000137561 ENSG00000137561 HGNC:12404 TUBB4B gene TUBB4B Expert Review Green;Expert Review Green;Expert list;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Leber congenital amaurosis with early-onset deafness MIM#617879;Primary ciliary dyskinesia, MONDO:0016575, TUBB4B-related" Abnormal retinal morphology;HP:0000479 29198720 False 3 100;0;0 6.257 True ENSG00000188229 ENSG00000188229 HGNC:20771 TUBGCP4 gene TUBGCP4 Expert Review Green;RetNet Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly and chorioretinopathy, autosomal recessive, 3, MIM# 616335 Abnormal retinal morphology;HP:0000479 25817018;32270730 False 3 100;0;0 6.257 True ENSG00000137822 ENSG00000137822 HGNC:16691 TUBGCP6 gene TUBGCP6 Expert Review Green;RetNet Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM# 251270 Abnormal retinal morphology;HP:0000479 22279524;25344692 False 3 100;0;0 6.257 True ENSG00000128159 ENSG00000128159 HGNC:18127 TULP1 gene TULP1 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 15, 613843;Retinitis pigmentosa 14, 600132 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000112041 ENSG00000112041 HGNC:12423 UBAP1L gene UBAP1L Expert Review Green;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy (MONDO:0015993), UBAP1L-related Abnormal retinal morphology;HP:0000479 PMID: 38293907;38420906 False 3 100;0;0 6.257 True ENSG00000246922 ENSG00000246922 HGNC:40028 UCHL1 gene UCHL1 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 79, autosomal recessive (MIM#615491) Abnormal retinal morphology;HP:0000479 29735986;28007905;23359680;11555633;35986737 False 3 100;0;0 6.257 True ENSG00000154277 ENSG00000154277 HGNC:12513 UFM1 gene UFM1 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 14, MIM# 617899 Abnormal retinal morphology;HP:0000479 28931644;29868776 False 3 100;0;0 6.257 True ENSG00000120686 ENSG00000120686 HGNC:20597 USH1C gene USH1C Expert Review Green;Expert Review Green;Royal Melbourne Hospital;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 1C, 276904 Abnormal retinal morphology;HP:0000479 10973247;10973248;11239869;21203349;12107438 False 3 100;0;0 6.257 True ENSG00000006611 ENSG00000006611 HGNC:12597 USH1G gene USH1G Expert Review Green;Royal Melbourne Hospital;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 1G, 606943 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 True ENSG00000182040 ENSG00000182040 HGNC:16356 USH2A gene USH2A Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 39, 613809;Usher syndrome, type 2A, 276901 Abnormal retinal morphology;HP:0000479 12427073;20507924;17296898;19881469;18273898 False 3 100;0;0 6.257 True ENSG00000042781 ENSG00000042781 HGNC:12601 USH2A gene USH2A Expert Review Green;Expert Review Green;Royal Melbourne Hospital;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 2A, 276901;Retinitis pigmentosa 39, 613809 Abnormal retinal morphology;HP:0000479 26927203;22135276 False 3 100;0;0 6.257 True ENSG00000042781 ENSG00000042781 HGNC:12601 USP45 gene USP45 Expert Review Green;Literature;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Lebers congenital amaurosis Abnormal retinal morphology;HP:0000479 30573563 False 3 100;0;0 6.257 True ENSG00000123552 ENSG00000123552 HGNC:20080 VCAN gene VCAN Expert Review Green;RetNet;Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wagner Syndrome Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000038427 ENSG00000038427 HGNC:2464 VCAN gene VCAN Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wagner syndrome 1, MIM# 143200 Abnormal retinal morphology;HP:0000479 16877430;22739342;16636652;16043844;32854301;30657523;30055036;29071374;27667122 False 3 100;0;0 6.257 True ENSG00000038427 ENSG00000038427 HGNC:2464 VPS13B gene VPS13B Expert Review Green;Expert Review Green;Expert list;Expert Review;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cohen syndrome MIM#216550 Abnormal retinal morphology;HP:0000479 31580008;24334764 False 3 67;33;0 6.257 True ENSG00000132549 ENSG00000132549 HGNC:2183 WDPCP gene WDPCP Expert Review Green;RetNet;Expert Review Green;Expert list;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Abnormal retinal morphology;HP:0000479 False 3 50;0;50 6.257 False ENSG00000143951 ENSG00000143951 HGNC:28027 WDR19 gene WDR19 Expert Review Green;RetNet;Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000157796 ENSG00000157796 HGNC:18340 WFS1 gene WFS1 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Wolfram syndrome 1, autosomal recessive, MIM# 222300;Wolfram-like syndrome, autosomal dominant, MIM#614296 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 True ENSG00000109501 ENSG00000109501 HGNC:12762 WFS1 gene WFS1 RetNet;Expert Review Green Retinal Disorders Superpanel Ophthalmological disorders Unknown Abnormal retinal morphology;HP:0000479 False 3 100;0;0 6.257 False ENSG00000109501 ENSG00000109501 HGNC:12762 WHRN gene WHRN Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 2D, 611383 Abnormal retinal morphology;HP:0000479 17171570;21738389;22147658;26338283;12833159;20502675;28254438;27117407;12833159;29270100;15841483 False 3 100;0;0 6.257 True ENSG00000095397 ENSG00000095397 HGNC:16361 ZFYVE26 gene ZFYVE26 Expert Review Green;Expert Review;Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 15, autosomal recessive MIM#270700 Abnormal retinal morphology;HP:0000479 31385551;18394578;14409555 False 3 100;0;0 6.257 False ENSG00000072121 ENSG00000072121 HGNC:20761 ZNF408 gene ZNF408 Expert Review Green;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 72, MIM# 616469 Abnormal retinal morphology;HP:0000479 25882705;34259982;28095122 False 3 100;0;0 6.257 True ENSG00000175213 ENSG00000175213 HGNC:20041 ZNF408 gene ZNF408 Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Exudative vitreoretinopathy 6, MIM# 616468 Abnormal retinal morphology;HP:0000479 23716654;32530348;32097476;32238352;30998249;29982478 False 3 100;0;0 6.257 True ENSG00000175213 ENSG00000175213 HGNC:20041 ZNHIT3 gene ZNHIT3 Expert Review Green;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal PEHO syndrome, MIM# 260565 Abnormal retinal morphology;HP:0000479 28335020;28335020;31048081 False 3 100;0;0 6.257 True ENSG00000108278 ENSG00000273611 HGNC:12309 ADIPOR1 gene ADIPOR1 Expert Review Amber;Royal Melbourne Hospital;Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal syndromic retinitis pigmentosa;non-syndromic autosomal dominant retinitis pigmentosa Abnormal retinal morphology;HP:0000479 26662040;25736573;30254279;27655171 False 2 0;100;0 6.257 False ENSG00000159346 ENSG00000159346 HGNC:24040 ADIPOR1 gene ADIPOR1 Expert Review Amber;Expert Review Amber;RetNet;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal syndromic retinitis pigmentosa;non-syndromic autosomal dominant retinitis pigmentosa Abnormal retinal morphology;HP:0000479 27655171;26662040 False 2 0;100;0 6.257 True ENSG00000159346 ENSG00000159346 HGNC:24040 ADIPOR1 gene ADIPOR1 Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal syndromic retinitis pigmentosa;non-syndromic autosomal dominant retinitis pigmentosa Abnormal retinal morphology;HP:0000479 26662040;25736573;30254279;27655171 False 2 0;100;0 6.257 True ENSG00000159346 ENSG00000159346 HGNC:24040 AGPAT3 gene AGPAT3 Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO#0700092), AGPAT3-related Abnormal retinal morphology;HP:0000479 37821758 False 2 100;0;0 6.257 True ENSG00000160216 ENSG00000160216 HGNC:326 AHR gene AHR Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal ?Retinitis pigmentosa 85 Abnormal retinal morphology;HP:0000479 29726989 False 2 0;100;0 6.257 True ENSG00000106546 ENSG00000106546 HGNC:348 ARL3 gene ARL3 Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 83;Joubert syndrome 35 Abnormal retinal morphology;HP:0000479 26936825;16565502;26964041;26814127;30932721;30269812 False 2 0;100;0 6.257 False ENSG00000138175 ENSG00000138175 HGNC:694 ARL6 gene ARL6 Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 55, 613575;Bardet-Biedl syndrome 3, 209900 Abnormal retinal morphology;HP:0000479 False 2 0;100;0 6.257 False ENSG00000113966 ENSG00000113966 HGNC:13210 ARMC9 gene ARMC9 Expert Review Amber;Expert list;Expert Review Green;Expert list;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 30 MIM#617622 Abnormal retinal morphology;HP:0000479 28625504 False 2 67;33;0 6.257 True ENSG00000135931 ENSG00000135931 HGNC:20730 ATF6 gene ATF6 Expert Review Amber;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Achromatopsia 7 MIM#616517 Abnormal retinal morphology;HP:0000479 26063662;26029869 False 2 100;0;0 6.257 True ENSG00000118217 ENSG00000118217 HGNC:791 AUH gene AUH Expert Review Amber;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type I, MIM# 250950 Abnormal retinal morphology;HP:0000479 20855850;30143805;31765440;1594352 False 2 0;100;0 6.257 True ENSG00000148090 ENSG00000148090 HGNC:890 BBIP1 gene BBIP1 Expert Review Amber;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 18, MIM#615995 Abnormal retinal morphology;HP:0000479 24026985;32055034 False 2 0;100;0 6.257 True ENSG00000214413 ENSG00000214413 HGNC:28093 C8orf37 gene C8orf37 Expert Review Amber;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 21, MIM#617406 Abnormal retinal morphology;HP:0000479 27008867;26854863 False 2 0;100;0 6.257 True ENSG00000156172 ENSG00000156172 HGNC:27232 CCDC88A gene CCDC88A Expert Review Amber;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal PEHO syndrome-like, MIM#617507 Abnormal retinal morphology;HP:0000479 26917597;30392057;28899015 False 2 0;100;0 6.257 True ENSG00000115355 ENSG00000115355 HGNC:25523 CEP162 gene CEP162 Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa MONDO:0019200, CEP162-related Abnormal retinal morphology;HP:0000479 36862503 False 2 0;100;0 6.257 True ENSG00000135315 ENSG00000135315 HGNC:21107 CLCC1 gene CLCC1 Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 32, MIM# 609913 Abnormal retinal morphology;HP:0000479 30157172 False 2 0;100;0 6.257 True ENSG00000121940 ENSG00000121940 HGNC:29675 COL9A3 gene COL9A3 Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Peripheral vitreoretinal degeneration and retinal detachment, AD Abnormal retinal morphology;HP:0000479 33633367 False 2 50;50;0 6.257 True ENSG00000092758 ENSG00000092758 HGNC:2219 CRB2 gene CRB2 Expert Review Amber;Expert Review Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa Abnormal retinal morphology;HP:0000479 30593785;31438467;33575434;30239717 False 2 0;100;0 6.257 True ENSG00000148204 ENSG00000148204 HGNC:18688 DHX38 gene DHX38 Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 84, MIM#618220 Abnormal retinal morphology;HP:0000479 24737827;30208423 False 2 0;100;0 6.257 True ENSG00000140829 ENSG00000140829 HGNC:17211 EMC1 gene EMC1 Royal Melbourne Hospital;Expert Review Amber Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal ?Retinitis pigmentosa;Cerebellar atrophy, visual impairment, and psychomotor retardation Abnormal retinal morphology;HP:0000479 29271071;23105016 False 2 0;100;0 6.257 False ENSG00000127463 ENSG00000127463 HGNC:28957 GDF6 gene GDF6 Expert Review Amber;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 17 MIM#615360 Abnormal retinal morphology;HP:0000479 23307924 False 2 0;100;0 6.257 True ENSG00000156466 ENSG00000156466 HGNC:4221 GUCA1B gene GUCA1B Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 48, MIM#613827 Abnormal retinal morphology;HP:0000479 15452722;26161267 False 2 0;100;0 6.257 True ENSG00000112599 ENSG00000112599 HGNC:4679 GUCA1B gene GUCA1B Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 48, MIM#613827 Abnormal retinal morphology;HP:0000479 15452722;26161267 False 2 0;100;0 6.257 True ENSG00000112599 ENSG00000112599 HGNC:4679 HACE1 gene HACE1 Expert Review Green;Expert Review Amber;Expert list;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia and psychomotor retardation with or without seizures MIM#616756 Abnormal retinal morphology;HP:0000479 26424145 False 2 50;50;0 6.257 True ENSG00000085382 ENSG00000085382 HGNC:21033 HBS1L gene HBS1L Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinal disorder MONDO:0005283 Abnormal retinal morphology;HP:0000479 38966981;24288412;30707697 False 2 0;100;0 6.257 True ENSG00000112339 ENSG00000112339 HGNC:4834 IFT81 gene IFT81 Expert Review Amber;RetNet Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895 Abnormal retinal morphology;HP:0000479 28460050;26275418;27666822;32783357 False 2 0;100;0 6.257 True ENSG00000122970 ENSG00000122970 HGNC:14313 IMPG1 gene IMPG1 Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Retinitis pigmentosa, MONDO:0019200;Retinitis pigmentosa 91, MIM# 153870" Abnormal retinal morphology;HP:0000479 32817297 False 2 0;100;0 6.257 True ENSG00000112706 ENSG00000112706 HGNC:6055 INVS gene INVS Expert Review Amber;RetNet Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 2, infantile, MIM#602088 Abnormal retinal morphology;HP:0000479 16522655 False 2 50;50;0 6.257 True ENSG00000119509 ENSG00000119509 HGNC:17870 IRX5 gene IRX5 Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted cone dystrophy, MONDO:0000455 Abnormal retinal morphology;HP:0000479 33891002;28041643;32045705;22581230;17230486 False 2 0;100;0 6.257 True Other ENSG00000176842 ENSG00000176842 HGNC:14361 IRX6 gene IRX6 Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted cone dystrophy, MONDO:0000455 Abnormal retinal morphology;HP:0000479 33891002 False 2 0;100;0 6.257 True Other ENSG00000159387 ENSG00000159387 HGNC:14675 JAG1 gene JAG1 Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial exudative vitreoretinopathy Abnormal retinal morphology;HP:0000479 31273345 False 2 0;100;0 6.257 True ENSG00000101384 ENSG00000101384 HGNC:6188 KCNJ13 gene KCNJ13 Expert Review Amber;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Snowflake vitreoretinal degeneration, MIM# 193230 Abnormal retinal morphology;HP:0000479 18179896;23255580;31647904 False 2 0;100;0 6.257 True ENSG00000115474 ENSG00000115474 HGNC:6259 LOXL3 gene LOXL3 Expert Review Amber;Expert list;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Stickler syndrome Abnormal retinal morphology;HP:0000479 30362103;25663169 False 2 0;100;0 6.257 True ENSG00000115318 ENSG00000115318 HGNC:13869 LRRC32 gene LRRC32 Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074 Abnormal retinal morphology;HP:0000479 30976112 False 2 0;100;0 6.257 True ENSG00000137507 ENSG00000137507 HGNC:4161 MCAT gene MCAT Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Optic atrophy 15, MIM# 620583 Abnormal retinal morphology;HP:0000479 33918393;31915829 False 2 0;50;50 6.257 True ENSG00000100294 ENSG00000100294 HGNC:29622 MFN2 gene MFN2 Expert Review Amber;RetNet Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2A2A, MIM# 609260;Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087 Abnormal retinal morphology;HP:0000479 30922813;28487236;21707411;22957060 False 2 0;100;0 6.257 True ENSG00000116688 ENSG00000116688 HGNC:16877 MIR204 gene MIR204 Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinal dystrophy and iris coloboma with or without cataract (MIM#616722) Abnormal retinal morphology;HP:0000479 26056285;37321975 False 2 0;100;0 6.257 True Other ENSG00000207935 ENSG00000207935 HGNC:31582 MIR204 gene MIR204 Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinal dystrophy and iris coloboma with or without cataract (MIM#616722) Abnormal retinal morphology;HP:0000479 26056285;37321975 False 2 100;0;0 6.257 True Other ENSG00000207935 ENSG00000207935 HGNC:31582 MPDZ gene MPDZ Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal hydrocephalus, congenital, 2, with or without brain or eye anomalies MIM:615219 Abnormal retinal morphology;HP:0000479 36594712;22159006;21862650 False 2 0;100;0 6.257 True ENSG00000107186 ENSG00000107186 HGNC:7208 MVK gene MVK Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Mevalonic aciduria;Hyper-IgD syndrome Abnormal retinal morphology;HP:0000479 False 2 0;100;0 6.257 False ENSG00000110921 ENSG00000110921 HGNC:7530 NDUFS1 gene NDUFS1 Expert Review Amber;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 5, 618226 Abnormal retinal morphology;HP:0000479 11349233;24952175;22200994;21203893 False 2 0;100;0 6.257 True ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS3 gene NDUFS3 Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230 Abnormal retinal morphology;HP:0000479 22499348;30140060;14729820;33097395 False 2 0;100;0 6.257 True ENSG00000213619 ENSG00000213619 HGNC:7710 NEK2 gene NEK2 Royal Melbourne Hospital;Expert Review Amber Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal ?Retinitis pigmentosa 67, 615565 Abnormal retinal morphology;HP:0000479 24043777 False 2 0;100;0 6.257 False ENSG00000117650 ENSG00000117650 HGNC:7745 OPN1LW gene OPN1LW Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Blue cone monochromacy MIM#303700;Colourblindness, protan MIM#303900 Abnormal retinal morphology;HP:0000479 30679166;25168334;32860923 False 2 0;100;0 6.257 True ENSG00000102076 ENSG00000102076 HGNC:9936 OPN1MW gene OPN1MW Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Blue cone monochromacy MIM#303700;Colourblindness, deutan MIM#303800 Abnormal retinal morphology;HP:0000479 30679166;25168334;32860923 False 2 0;100;0 6.257 True ENSG00000147380 ENSG00000268221 HGNC:4206 PDE6G gene PDE6G Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 57, MIM#613582 Abnormal retinal morphology;HP:0000479 20655036 False 2 0;100;0 6.257 True ENSG00000185527 ENSG00000185527 HGNC:8789 PDSS1 gene PDSS1 Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Coenzyme Q10 deficiency, primary, 2, MIM# 614651" Abnormal retinal morphology;HP:0000479 33285023 False 2 0;100;0 6.257 True ENSG00000148459 ENSG00000148459 HGNC:17759 PDZD7 gene PDZD7 Expert Review Amber;Royal Melbourne Hospital;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472 Abnormal retinal morphology;HP:0000479 20440071;19028668;26416264;26849169;27068579;26445815;28173822;24334608 False 2 0;100;0 6.257 True ENSG00000186862 ENSG00000186862 HGNC:26257 PEX26 gene PEX26 Expert Review Amber;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872;Peroxisome biogenesis disorder 7B MIM#614873 Abnormal retinal morphology;HP:0000479 28944237 False 2 50;50;0 6.257 True ENSG00000215193 ENSG00000215193 HGNC:22965 PLAA gene PLAA Expert Review Amber;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (MIM#617527) Abnormal retinal morphology;HP:0000479 28413018;28007986 False 2 0;100;0 6.257 True ENSG00000137055 ENSG00000137055 HGNC:9043 POC5 gene POC5 Expert Review Amber;RetNet Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal retinitis pigmentosa;short stature;microcephaly;recurrent glomerulonephritis Abnormal retinal morphology;HP:0000479 29272404 False 2 0;100;0 6.257 True ENSG00000152359 ENSG00000152359 HGNC:26658 POLG gene POLG Expert Review Amber;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormal retinal morphology;HP:0000479 31613174;20142534;30395865 False 2 0;100;0 6.257 True ENSG00000140521 ENSG00000140521 HGNC:9179 PRPF6 gene PRPF6 Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 60, MIM# 613983 Abnormal retinal morphology;HP:0000479 21549338;32335390 False 2 0;100;0 6.257 True ENSG00000101161 ENSG00000101161 HGNC:15860 RBP3 gene RBP3 Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 66, 615233 Abnormal retinal morphology;HP:0000479 25766589;19074801 False 2 0;100;0 6.257 True ENSG00000107618 ENSG00000265203 HGNC:9921 RDH11 gene RDH11 Expert Review Amber;RetNet Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy, juvenile cataracts, and short stature syndrome, MIM# 616108 Abnormal retinal morphology;HP:0000479 24916380;15634683;30731079;18326732;34988992 False 2 0;50;50 6.257 True ENSG00000072042 ENSG00000072042 HGNC:17964 SAG gene SAG Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 47, MIM# 613758 Abnormal retinal morphology;HP:0000479 28549094;33047631 False 2 0;100;0 6.257 True ENSG00000130561 ENSG00000130561 HGNC:10521 SEMA4A gene SEMA4A Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 10, 610283 Abnormal retinal morphology;HP:0000479 30679166;16199541;28805479;23360997;15277503 False 2 0;100;0 6.257 True ENSG00000196189 ENSG00000196189 HGNC:10729 SEMA4A gene SEMA4A Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 10, 610283;Retinitis pigmentosa 35, 610282 Abnormal retinal morphology;HP:0000479 16199541;28805479;23360997;15277503 False 2 0;100;0 6.257 True ENSG00000196189 ENSG00000196189 HGNC:10729 SLC29A3 gene SLC29A3 Expert Review Amber;Literature;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Histiocytosis-lymphadenopathy plus syndrome - MIM#602782 Abnormal retinal morphology;HP:0000479 False 2 50;50;0 6.257 True ENSG00000198246 ENSG00000198246 HGNC:23096 SLC4A7 gene SLC4A7 Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa, MONDO:0019200, SLC4A7-related Abnormal retinal morphology;HP:0000479 PMID: 35486108, 32594822 False 2 0;100;0 6.257 True ENSG00000033867 ENSG00000033867 HGNC:11033 SLC6A6 gene SLC6A6 Expert Review Amber;Literature;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Hypotaurinaemic retinal degeneration and cardiomyopathy (HTRDC), MIM#145350;Cone-rod retinopathy;cardiomyopathy Abnormal retinal morphology;HP:0000479 31345061;31903486;29886034 False 2 0;100;0 6.257 True ENSG00000131389 ENSG00000131389 HGNC:11052 SNF8 gene SNF8 Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder plus optic atrophy, MIM# 620784 Abnormal retinal morphology;HP:0000479 38423010 False 2 0;100;0 6.257 True ENSG00000159210 ENSG00000159210 HGNC:17028 TBCD gene TBCD Expert Review Amber;Expert Review;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193 Abnormal retinal morphology;HP:0000479 27666370;27666374 False 2 0;100;0 6.257 True ENSG00000141556 ENSG00000141556 HGNC:11581 TEAD1 gene TEAD1 Expert Review Amber;Expert list Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sveinsson chorioretinal atrophy MIM#108985 Abnormal retinal morphology;HP:0000479 15016762;17689488;30903741;26091538 False 2 0;100;0 6.257 True ENSG00000187079 ENSG00000187079 HGNC:11714 TIMM50 gene TIMM50 Expert Review Amber;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type IX (MIM#617698) Abnormal retinal morphology;HP:0000479 27573165;31058414 False 2 100;0;0 6.257 True ENSG00000105197 ENSG00000105197 HGNC:23656 TIMM8A gene TIMM8A Expert Review Amber;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mohr-Tranebjaerg syndrome (MIM#304700) Abnormal retinal morphology;HP:0000479 31903733;30634948;22736418 False 2 0;100;0 6.257 True ENSG00000126953 ENSG00000126953 HGNC:11817 TMEM107 gene TMEM107 Expert Review Amber;Expert list;Expert Review Green;Expert Review;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 29 MIM#617562;Orofaciodigital syndrome XVI MIM#617563 Abnormal retinal morphology;HP:0000479 26595381 False 2 33;67;0 6.257 True ENSG00000179029 ENSG00000179029 HGNC:28128 TUB gene TUB Expert Review Amber;RetNet Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy and obesity, MIM# 616188 Abnormal retinal morphology;HP:0000479 24375934;28852204 False 2 0;100;0 6.257 True ENSG00000166402 ENSG00000166402 HGNC:12406 UNC119 gene UNC119 Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cone-rod dystrophy 24, MIM# 620342 Abnormal retinal morphology;HP:0000479 30679166;11006213;23563732;27079236 False 2 50;50;0 6.257 True ENSG00000109103 ENSG00000109103 HGNC:12565 VWA8 gene VWA8 Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 97, MIM#620422 Abnormal retinal morphology;HP:0000479 PMID: 37012052 False 2 0;100;0 6.257 True ENSG00000102763 ENSG00000102763 HGNC:29071 ZDHHC16 gene ZDHHC16 Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder MONDO:0700092, ZDHHC16-related Abnormal retinal morphology;HP:0000479 39313616 False 2 0;100;0 6.257 True ENSG00000171307 ENSG00000171307 HGNC:20714 ZNF513 gene ZNF513 Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 58, 613617 Abnormal retinal morphology;HP:0000479 False 2 0;100;0 6.257 False ENSG00000163795 ENSG00000163795 HGNC:26498 ADGRA3 gene ADGRA3 Expert Review Red;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa, MONDO:0019200, ADGRA3-related Abnormal retinal morphology;HP:0000479 23105016 False 1 0;0;100 6.257 True ENSG00000152990 ENSG00000152990 HGNC:13839 CA4 gene CA4 Expert Review Red;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinitis pigmentosa 17, 600852 Abnormal retinal morphology;HP:0000479 15563508;15090652;17652713;16260723 False 1 0;0;100 6.257 True ENSG00000167434 ENSG00000167434 HGNC:1375 CCT2 gene CCT2 Expert Review Red;NHS GMS Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber's congenital amaurosis Abnormal retinal morphology;HP:0000479 27645772;29450543 False 1 0;0;100 6.257 True ENSG00000166226 ENSG00000166226 HGNC:1615 CEP19 gene CEP19 Expert Review Red;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome Abnormal retinal morphology;HP:0000479 29127258;24268657 False 1 0;0;100 6.257 True ENSG00000174007 ENSG00000174007 HGNC:28209 CIB2 gene CIB2 Expert Review Red;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type IJ, 614869 Abnormal retinal morphology;HP:0000479 23023331;23023331;26173970;26473954;27344577;26226137;26445815 False 1 0;0;100 6.257 True ENSG00000136425 ENSG00000136425 HGNC:24579 CNGA3 gene CNGA3 Expert Review Red;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Achromatopsia 2 MIM#216900 Abnormal retinal morphology;HP:0000479 9662398;11536077;17265047 False 1 100;0;0 6.257 True ENSG00000144191 ENSG00000144191 HGNC:2150 DTHD1 gene DTHD1 Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis with muscle dystrophy Abnormal retinal morphology;HP:0000479 23105016 False 1 0;0;100 6.257 False ENSG00000197057 ENSG00000197057 HGNC:37261 ESPN gene ESPN Expert Review Red;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 1M, MIM#618632 Abnormal retinal morphology;HP:0000479 29572253 False 1 0;0;100 6.257 True ENSG00000187017 ENSG00000187017 HGNC:13281 FSCN2 gene FSCN2 Expert Review Red;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinitis pigmentosa 30 MIM#607921;Macular degeneration Abnormal retinal morphology;HP:0000479 11527955;16043865;16280978;17251446;18450588 False 1 0;0;100 6.257 True ENSG00000186765 ENSG00000186765 HGNC:3960 FSCN2 gene FSCN2 Expert Review Red;Royal Melbourne Hospital;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinitis pigmentosa 30 MIM#607921;Macular degeneration Abnormal retinal morphology;HP:0000479 16043865;18450588 False 1 0;0;100 6.257 True ENSG00000186765 ENSG00000186765 HGNC:3960 HARS gene HARS Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome type 3B Abnormal retinal morphology;HP:0000479 False 1 0;0;100 6.257 True ENSG00000170445 ENSG00000170445 HGNC:4816 HARS gene HARS Expert Review Red;RetNet;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome type 3B Abnormal retinal morphology;HP:0000479 False 1 50;0;50 6.257 False ENSG00000170445 ENSG00000170445 HGNC:4816 HKDC1 gene HKDC1 Expert Review Red;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Retinitis pigmentosa 92, MIM# 619614" Abnormal retinal morphology;HP:0000479 30085091 False 1 0;0;100 6.257 True ENSG00000156510 ENSG00000156510 HGNC:23302 HMCN1 gene HMCN1 Expert Review Red;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Macular Degeneration Abnormal retinal morphology;HP:0000479 False 1 0;0;100 6.257 True ENSG00000143341 ENSG00000143341 HGNC:19194 ITM2B gene ITM2B Expert Review Red;Expert list Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities MIM#616079 Abnormal retinal morphology;HP:0000479 24026677 False 1 0;0;100 6.257 True ENSG00000136156 ENSG00000136156 HGNC:6174 MIEF1 gene MIEF1 Expert Review Red;Literature Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Optic atrophy 14 (MIM#620550) Abnormal retinal morphology;HP:0000479 33632269 False 1 0;100;0 6.257 True ENSG00000100335 ENSG00000100335 HGNC:25979 MTPAP gene MTPAP Expert Review Red;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 4, autosomal recessive 613672 Abnormal retinal morphology;HP:0000479 20970105 False 1 0;0;100 6.257 True ENSG00000107951 ENSG00000107951 HGNC:25532 NDUFA7 gene NDUFA7 Expert Review Red;Other Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Optic atrophy, MONDO:0003608, NDUFA7-related Abnormal retinal morphology;HP:0000479 False 1 0;50;50 6.257 True ENSG00000267855 ENSG00000267855 HGNC:7691 PBX1 gene PBX1 Expert Review Red;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay Abnormal retinal morphology;HP:0000479 29036646 False 1 0;0;100 6.257 True ENSG00000185630 ENSG00000185630 HGNC:8632 PDE6H gene PDE6H Expert Review Red;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinal Cone Dystrophy 3, 610024 Abnormal retinal morphology;HP:0000479 30679166;15629837;22901948 False 1 0;0;100 6.257 True ENSG00000139053 ENSG00000139053 HGNC:8790 PISD gene PISD Expert list;Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Liberfarb syndrome MIM#618889" Abnormal retinal morphology;HP:0000479 31263216 False 1 50;0;50 6.257 False ENSG00000241878 ENSG00000241878 HGNC:8999 PITPNM3 gene PITPNM3 Expert Review Red;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cone-rod dystrophy 5, 600977 Abnormal retinal morphology;HP:0000479 17377520;22405330 False 1 0;0;100 6.257 True ENSG00000091622 ENSG00000091622 HGNC:21043 PITPNM3 gene PITPNM3 Expert Review Red;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cone-rod dystrophy 5, 600977 Abnormal retinal morphology;HP:0000479 22405330;17377520 False 1 0;0;100 6.257 False ENSG00000091622 ENSG00000091622 HGNC:21043 PITPNM3 gene PITPNM3 Expert Review Red;Royal Melbourne Hospital;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cone-rod dystrophy 5, 600977 Abnormal retinal morphology;HP:0000479 30679166;17377520;22405330 False 1 0;0;100 6.257 False ENSG00000091622 ENSG00000091622 HGNC:21043 PMPCA gene PMPCA Expert Review Red;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 2 Abnormal retinal morphology;HP:0000479 False 1 0;0;100 6.257 False ENSG00000165688 ENSG00000165688 HGNC:18667 PRKCG gene PRKCG Expert list Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 11 MIM#600138 Abnormal retinal morphology;HP:0000479 9545390;16828200 False 1 0;0;100 6.257 False ENSG00000126583 ENSG00000126583 HGNC:9402 RGR gene RGR Expert Review Red;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 44, 613769 Abnormal retinal morphology;HP:0000479 10581022;30347075;27748892;27623334 False 1 0;0;100 6.257 True ENSG00000148604 ENSG00000148604 HGNC:9990 RIMS1 gene RIMS1 Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cone-rod dystrophy 7, 603649 Abnormal retinal morphology;HP:0000479 30679166 False 1 0;0;100 6.257 True ENSG00000079841 ENSG00000079841 HGNC:17282 RP9 gene RP9 Expert Review Red;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinitis pigmentosa 9, 180104 Abnormal retinal morphology;HP:0000479 16799052;16671097 False 1 0;0;100 6.257 True ENSG00000164610 ENSG00000164610 HGNC:10288 SAG gene SAG Expert Review Red;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 47, MIM# 613758 Abnormal retinal morphology;HP:0000479 28549094;33047631 False 1 0;50;50 6.257 True ENSG00000130561 ENSG00000130561 HGNC:10521 SAMD11 gene SAMD11 Expert Review Red;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Autosomal recessive retinitis pigmentosa Abnormal retinal morphology;HP:0000479 27734943 False 1 0;0;100 6.257 False ENSG00000187634 ENSG00000187634 HGNC:28706 SCAPER gene SCAPER Expert Review Red;Expert list;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder and retinitis pigmentosa MIM#618195 Abnormal retinal morphology;HP:0000479 28794130;31069901;31192531;30723319;30561111 False 1 0;0;100 6.257 True ENSG00000140386 ENSG00000140386 HGNC:13081 SCLT1 gene SCLT1 Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Nonsyndromic retinitis pigmentosa Abnormal retinal morphology;HP:0000479 30425282 False 1 0;0;100 6.257 False ENSG00000151466 ENSG00000151466 HGNC:26406 SEMA4A gene SEMA4A Expert Review Red;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cone-rod dystrophy 10, 610283;Retinitis pigmentosa 35, 610282 Abnormal retinal morphology;HP:0000479 16199541;28805479;23360997;15277503 False 1 0;0;100 6.257 True ENSG00000196189 ENSG00000196189 HGNC:10729 SLC24A1 gene SLC24A1 Expert Review Red;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary (complete), 1D, autosomal recessive;613830 Abnormal retinal morphology;HP:0000479 26822852;20850105 False 1 0;100;0 6.257 True ENSG00000074621 ENSG00000074621 HGNC:10975 SLC39A12 gene SLC39A12 Expert Review Red;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa, MONDO:0019200, SLC39A12-related Abnormal retinal morphology;HP:0000479 PMID: 35486108 False 1 0;0;100 6.257 True ENSG00000148482 ENSG00000148482 HGNC:20860 SLC7A14 gene SLC7A14 Expert Review Red;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 68, 615725 (3) Abnormal retinal morphology;HP:0000479 27028480;24670872 False 1 0;0;100 6.257 True ENSG00000013293 ENSG00000013293 HGNC:29326 SPP2 gene SPP2 Expert Review Red;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autosomal dominant retinitis pigmentosa Abnormal retinal morphology;HP:0000479 26459573 False 1 0;0;100 6.257 False ENSG00000072080 ENSG00000072080 HGNC:11256 TRIM32 gene TRIM32 Expert Review Red;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 11, MIM# 615988 Abnormal retinal morphology;HP:0000479 16606853 False 1 0;0;100 6.257 True ENSG00000119401 ENSG00000119401 HGNC:16380 UBA5 gene UBA5 Expert Review Red;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 44 (MIM#617132) Abnormal retinal morphology;HP:0000479 28965491;27545674;27545681 False 1 0;0;100 6.257 True ENSG00000081307 ENSG00000081307 HGNC:23230 VSX2 gene VSX2 Expert Review Red;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal smooth irides;lens subluxation;cone-rod dysfunction;high myopia Abnormal retinal morphology;HP:0000479 24001013 False 1 0;0;100 6.257 True ENSG00000119614 ENSG00000119614 HGNC:1975 WDPCP gene WDPCP Expert Review Red;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 15, MIM# 615992 Abnormal retinal morphology;HP:0000479 20671153;25427950 False 1 0;0;100 6.257 True ENSG00000143951 ENSG00000143951 HGNC:28027 WDR34 gene WDR34 Expert Review Red;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa Abnormal retinal morphology;HP:0000479 33124039 False 1 0;0;100 6.257 True ENSG00000119333 ENSG00000119333 HGNC:28296 YME1L1 gene YME1L1 Expert Review Red;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Optic atrophy 11 MIM#617302 Abnormal retinal morphology;HP:0000479 27495975 False 1 0;0;100 6.257 True ENSG00000136758 ENSG00000136758 HGNC:12843 ZNF423 gene ZNF423 Expert Review Red;RetNet;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 19 (MIM#614844) Abnormal retinal morphology;HP:0000479 22863007;33531950 False 1 0;33;67 6.257 True ENSG00000102935 ENSG00000102935 HGNC:16762 SCA7 str ATXN7 Expert Review Green;Literature Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 7 MIM#164500 Abnormal retinal morphology;HP:0000479 8908515;29325606;20301433 False 3 100;0;0 6.257 True ENSG00000163635 ENSG00000163635 HGNC:10560 3 63898362 63898391 63912686 63912715 CAG 27 37