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