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 BEST1 gene BEST1 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Dominant 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 0.57 False ENSG00000167995 ENSG00000167995 HGNC:12703 C1QTNF5 gene C1QTNF5 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Dominant 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 0.57 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 CRB1 gene CRB1 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Dominant 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 0.57 False ENSG00000134376 ENSG00000134376 HGNC:2343 CRX gene CRX Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Dominant 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 0.57 False ENSG00000105392 ENSG00000105392 HGNC:2383 HK1 gene HK1 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Dominant 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 0.57 True ENSG00000156515 ENSG00000156515 HGNC:4922 IMPDH1 gene IMPDH1 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Dominant 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 0.57 True ENSG00000106348 ENSG00000106348 HGNC:6052 IMPG1 gene IMPG1 Expert Review Green;Literature Retinitis pigmentosa_Autosomal Dominant Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa, MONDO:0019200 Abnormal retinal morphology;HP:0000479 32817297 False 3 100;0;0 0.57 True ENSG00000112706 ENSG00000112706 HGNC:6055 KLHL7 gene KLHL7 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Dominant Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinitis pigmentosa 42, 612943 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.57 False ENSG00000122550 ENSG00000122550 HGNC:15646 NR2E3 gene NR2E3 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Dominant 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 0.57 False ENSG00000031544 ENSG00000278570 HGNC:7974 NRL gene NRL Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Dominant Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 27, 613750 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.57 False ENSG00000129535 ENSG00000129535 HGNC:8002 PDE6B gene PDE6B Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Dominant 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 0.57 False ENSG00000133256 ENSG00000133256 HGNC:8786 PRPF3 gene PRPF3 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Dominant 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 0.57 True ENSG00000117360 ENSG00000117360 HGNC:17348 PRPF31 gene PRPF31 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Dominant Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 11, 600138 Abnormal retinal morphology;HP:0000479 32014492 False 3 100;0;0 0.57 True ENSG00000105618 ENSG00000105618 HGNC:15446 PRPF4 gene PRPF4 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Dominant 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 0.57 True ENSG00000136875 ENSG00000136875 HGNC:17349 PRPF8 gene PRPF8 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Dominant Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinitis pigmentosa 13, 600059 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.57 False ENSG00000174231 ENSG00000174231 HGNC:17340 PRPH2 gene PRPH2 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Dominant Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 7 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.57 False ENSG00000112619 ENSG00000112619 HGNC:9942 RDH12 gene RDH12 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Dominant 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 0.57 False ENSG00000139988 ENSG00000139988 HGNC:19977 RHO gene RHO Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Dominant 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 0.57 False ENSG00000163914 ENSG00000163914 HGNC:10012 ROM1 gene ROM1 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Dominant 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 0.57 True ENSG00000149489 ENSG00000149489 HGNC:10254 RP1 gene RP1 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Dominant Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 1, 180100 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 0.57 False ENSG00000104237 ENSG00000104237 HGNC:10263 RPE65 gene RPE65 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Dominant 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 0.57 False ENSG00000116745 ENSG00000116745 HGNC:10294 SNRNP200 gene SNRNP200 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Dominant Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinitis pigmentosa 33, 610359 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.57 False ENSG00000144028 ENSG00000144028 HGNC:30859 TOPORS gene TOPORS Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Dominant Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinitis pigmentosa 31, 609923 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.57 False ENSG00000197579 ENSG00000197579 HGNC:21653 ADIPOR1 gene ADIPOR1 Expert Review Amber;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Dominant 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 0.57 False ENSG00000159346 ENSG00000159346 HGNC:24040 ARL3 gene ARL3 Expert Review Amber;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Dominant 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 0.57 False ENSG00000138175 ENSG00000138175 HGNC:694 GUCA1B gene GUCA1B Expert Review Amber;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Dominant 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 0.57 True ENSG00000112599 ENSG00000112599 HGNC:4679 PRPF6 gene PRPF6 Expert Review Amber;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Dominant 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 0.57 True ENSG00000101161 ENSG00000101161 HGNC:15860 VWA8 gene VWA8 Expert Review Amber;Literature Retinitis pigmentosa_Autosomal Dominant 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 0.57 True ENSG00000102763 ENSG00000102763 HGNC:29071 CA4 gene CA4 Expert Review Red;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Dominant 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 0.57 True ENSG00000167434 ENSG00000167434 HGNC:1375 FSCN2 gene FSCN2 Expert Review Red;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Dominant 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 0.57 True ENSG00000186765 ENSG00000186765 HGNC:3960 PITPNM3 gene PITPNM3 Expert Review Red;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Dominant 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 0.57 False ENSG00000091622 ENSG00000091622 HGNC:21043 PRKCG gene PRKCG Expert list Retinitis pigmentosa_Autosomal Dominant 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 0.57 False ENSG00000126583 ENSG00000126583 HGNC:9402 RP9 gene RP9 Expert Review Red;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Dominant 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 0.57 True ENSG00000164610 ENSG00000164610 HGNC:10288 SAG gene SAG Expert Review Red;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Dominant 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 0.57 True ENSG00000130561 ENSG00000130561 HGNC:10521 SEMA4A gene SEMA4A Expert Review Red;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Dominant 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 0.57 True ENSG00000196189 ENSG00000196189 HGNC:10729 SPP2 gene SPP2 Expert Review Red;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Dominant Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autosomal dominant retinitis pigmentosa Abnormal retinal morphology;HP:0000479 26459573 False 1 0;0;100 0.57 False ENSG00000072080 ENSG00000072080 HGNC:11256