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 Macular Dystrophy/Stargardt Disease 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 Macular dystrophy;HP:0007754 9054934;30480703;29847635;29971439;16103129;30643219 False 3 100;0;0 0.45 True ENSG00000198691 ENSG00000198691 HGNC:34 BEST1 gene BEST1 Expert Review Green;Royal Melbourne Hospital Macular Dystrophy/Stargardt Disease 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 Macular dystrophy;HP:0007754 False 3 0;0;0 0.45 False ENSG00000167995 ENSG00000167995 HGNC:12703 C1QTNF5 gene C1QTNF5 Expert Review Green;Royal Melbourne Hospital Macular Dystrophy/Stargardt Disease Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinal degeneration, late-onset, autosomal dominant, 605670;Retinitis pigmentosa Macular dystrophy;HP:0007754 False 3 0;0;0 0.45 False ENSG00000223953 ENSG00000223953 HGNC:14344 CDH3 gene CDH3 Expert Review Green;Royal Melbourne Hospital Macular Dystrophy/Stargardt Disease Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280;Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 Macular dystrophy;HP:0007754 False 3 100;0;0 0.45 False ENSG00000062038 ENSG00000062038 HGNC:1762 CDHR1 gene CDHR1 Expert list;Expert Review Green Macular Dystrophy/Stargardt Disease Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Genetic macular dystrophy MONDO:0020242 Macular dystrophy;HP:0007754 32681094;31387115;35627310 False 3 100;0;0 0.45 True ENSG00000148600 ENSG00000148600 HGNC:14550 CERKL gene CERKL Expert Review Green;Royal Melbourne Hospital Macular Dystrophy/Stargardt Disease Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 26, 608380 Macular dystrophy;HP:0007754 False 3 0;0;0 0.45 False ENSG00000188452 ENSG00000188452 HGNC:21699 CFH gene CFH Expert Review Green;Royal Melbourne Hospital Macular Dystrophy/Stargardt Disease Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Basal laminar drusen, 126700 Macular dystrophy;HP:0007754 27572114;25814826 False 3 100;0;0 0.45 True ENSG00000000971 ENSG00000000971 HGNC:4883 CLEC3B gene CLEC3B Expert Review Green;Literature Macular Dystrophy/Stargardt Disease Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Macular dystrophy, retinal, 4, OMIM #619977 Macular dystrophy;HP:0007754 PMID: 35331648 False 3 100;0;0 0.45 True ENSG00000163815 ENSG00000163815 HGNC:11891 CNGB3 gene CNGB3 Expert Review Green;Royal Melbourne Hospital Macular Dystrophy/Stargardt Disease Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Macular degeneration, juvenile, 248200 -3;Achromatopsia-3, 262300;Stargardt Disease, Recessive Macular dystrophy;HP:0007754 False 3 0;0;0 0.45 False ENSG00000170289 ENSG00000170289 HGNC:2153 CRB1 gene CRB1 Expert Review Green;Royal Melbourne Hospital Macular Dystrophy/Stargardt Disease Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Pigmented paravenous chorioretinal atrophy, 172870;Leber congenital amaurosis 8, 613835;Retinitis pigmentosa-12, autosomal recessive, 600105 Macular dystrophy;HP:0007754 False 3 0;0;0 0.45 False ENSG00000134376 ENSG00000134376 HGNC:2343 CTNNA1 gene CTNNA1 Expert Review Green;Royal Melbourne Hospital Macular Dystrophy/Stargardt Disease Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Macular dystrophy, butterfly-shaped pigmentary, 2, MIM#608970 Macular dystrophy;HP:0007754 False 3 100;0;0 0.45 False ENSG00000044115 ENSG00000044115 HGNC:2509 DRAM2 gene DRAM2 Expert Review Green;Royal Melbourne Hospital Macular Dystrophy/Stargardt Disease Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 21, MIM#616502 Macular dystrophy;HP:0007754 False 3 0;0;0 0.45 False ENSG00000156171 ENSG00000156171 HGNC:28769 EFEMP1 gene EFEMP1 Expert Review Green;Royal Melbourne Hospital Macular Dystrophy/Stargardt Disease Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inherited macular dystrophy (Doyne/dominant drusen) Macular dystrophy;HP:0007754 False 3 0;0;0 0.45 False ENSG00000115380 ENSG00000115380 HGNC:3218 ELOVL4 gene ELOVL4 Expert Review Green;Royal Melbourne Hospital Macular Dystrophy/Stargardt Disease 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 Macular dystrophy;HP:0007754 False 3 0;0;0 0.45 False ENSG00000118402 ENSG00000118402 HGNC:14415 IMPG1 gene IMPG1 Expert Review Green;Royal Melbourne Hospital Macular Dystrophy/Stargardt Disease Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Macular dystrophy, vitelliform, 4, OMIM:616151;Retinitis pigmentosa, MONDO:0019200 Macular dystrophy;HP:0007754 23993198;28644393;30589393;30688845;32817297 False 3 100;0;0 0.45 True ENSG00000112706 ENSG00000112706 HGNC:6055 IMPG2 gene IMPG2 Expert Review Green;Royal Melbourne Hospital Macular Dystrophy/Stargardt Disease Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 56;Maculopathy, IMPG2 - related Macular dystrophy;HP:0007754 False 3 0;0;0 0.45 False ENSG00000081148 ENSG00000081148 HGNC:18362 MFSD8 gene MFSD8 Expert Review Green;Royal Melbourne Hospital Macular Dystrophy/Stargardt Disease Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 7, 610951;Macular dystrophy with central cone involvement, 616170 Macular dystrophy;HP:0007754 False 3 0;0;0 0.45 False ENSG00000164073 ENSG00000164073 HGNC:28486 OTX2 gene OTX2 Expert Review Green;Royal Melbourne Hospital Macular Dystrophy/Stargardt Disease 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 Macular dystrophy;HP:0007754 False 3 0;0;0 0.45 False ENSG00000165588 ENSG00000165588 HGNC:8522 PRDM13 gene PRDM13 Expert Review Green;Royal Melbourne Hospital Macular Dystrophy/Stargardt Disease Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Macular dystrophy, North Carolina type, MIM#136550;Retinal dystrophy;Chorioretinal atrophy, progressive bifocal, MIM# 600790 Macular dystrophy;HP:0007754 29258872;28973654;26507665;30710461 False 3 100;0;0 0.45 True Other ENSG00000112238 ENSG00000112238 HGNC:13998 PROM1 gene PROM1 Expert Review Green;Royal Melbourne Hospital Macular Dystrophy/Stargardt Disease 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 Macular dystrophy;HP:0007754 False 3 0;0;0 0.45 False ENSG00000007062 ENSG00000007062 HGNC:9454 PRPH2 gene PRPH2 Expert Review Green;Royal Melbourne Hospital Macular Dystrophy/Stargardt Disease 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 Macular dystrophy;HP:0007754 False 3 0;0;0 0.45 False ENSG00000112619 ENSG00000112619 HGNC:9942 RDH12 gene RDH12 Expert Review Green;Royal Melbourne Hospital Macular Dystrophy/Stargardt Disease Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Leber congenital amaurosis 13, 612712 Macular dystrophy;HP:0007754 False 3 0;0;0 0.45 False ENSG00000139988 ENSG00000139988 HGNC:19977 RLBP1 gene RLBP1 Expert Review Green;Royal Melbourne Hospital Macular Dystrophy/Stargardt Disease Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Fundus albipunctatus;Newfoundland rod - cone dystrophy;Fundus albipunctatus, 136880;Bothnia retinal dystrophy;Retinitis punctata albescens Macular dystrophy;HP:0007754 False 3 0;0;0 0.45 False ENSG00000140522 ENSG00000140522 HGNC:10024 RP1L1 gene RP1L1 Expert Review Green;Royal Melbourne Hospital Macular Dystrophy/Stargardt Disease Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Occult macular dystrophy, 613587 Macular dystrophy;HP:0007754 False 3 0;0;0 0.45 False ENSG00000183638 ENSG00000183638 HGNC:15946 RPGR gene RPGR Expert Review Green;Royal Melbourne Hospital Macular Dystrophy/Stargardt Disease 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 Macular dystrophy;HP:0007754 False 3 0;0;0 0.45 False ENSG00000156313 ENSG00000156313 HGNC:10295 RPGRIP1 gene RPGRIP1 Expert Review Green;Royal Melbourne Hospital Macular Dystrophy/Stargardt Disease Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 6, 613826;Cone-rod dystrophy 13, 608194 Macular dystrophy;HP:0007754 False 3 0;0;0 0.45 False ENSG00000092200 ENSG00000092200 HGNC:13436 RS1 gene RS1 Expert Review Green;Royal Melbourne Hospital Macular Dystrophy/Stargardt Disease Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Retinoschisis, MIM#312700;Developmental macular and foveal dystrophy (males with foveal schisis) Macular dystrophy;HP:0007754 15932525;23453514;23847049 False 3 100;0;0 0.45 True ENSG00000102104 ENSG00000102104 HGNC:10457 SAMD7 gene SAMD7 Expert Review Green;Literature Macular Dystrophy/Stargardt Disease Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Macular dystrophy with or without cone dysfunction, MIM# 620762 Macular dystrophy;HP:0007754 38272031 False 3 100;0;0 0.45 True ENSG00000187033 ENSG00000187033 HGNC:25394 TIMP3 gene TIMP3 Expert Review Green;Royal Melbourne Hospital Macular Dystrophy/Stargardt Disease Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sorsby fundus dystrophy, MIM# 136900 Macular dystrophy;HP:0007754 7894485;10854443;32715858;32666594;31757977;31369189;30668888 False 3 100;0;0 0.45 True ENSG00000100234 ENSG00000100234 HGNC:11822 GUCA1B gene GUCA1B Expert Review Amber;Royal Melbourne Hospital Macular Dystrophy/Stargardt Disease Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 48, MIM#613827 Macular dystrophy;HP:0007754 15452722;26161267 False 2 0;100;0 0.45 True ENSG00000112599 ENSG00000112599 HGNC:4679 RBP3 gene RBP3 Expert Review Amber;Royal Melbourne Hospital Macular Dystrophy/Stargardt Disease Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 66, 615233 Macular dystrophy;HP:0007754 25766589;19074801 False 2 0;100;0 0.45 True ENSG00000107618 ENSG00000265203 HGNC:9921 TEAD1 gene TEAD1 Expert list;Expert Review Amber Macular Dystrophy/Stargardt Disease Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sveinsson chorioretinal atrophy MIM#108985 Macular dystrophy;HP:0007754 15016762;17689488;30903741;26091538 False 2 0;100;0 0.45 True ENSG00000187079 ENSG00000187079 HGNC:11714