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 CABP4 gene CABP4 Expert Review Green;Royal Melbourne Hospital Congenital Stationary Night Blindness Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427 Congenital stationary night blindness;HP:0007642; Retinal dystrophy;HP:0000556 16960802;19074807;20157620;33369259 False 3 100;0;0 0.23 True ENSG00000175544 ENSG00000175544 HGNC:1386 CACNA1F gene CACNA1F Expert Review Green;Royal Melbourne Hospital Congenital Stationary Night Blindness 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 Congenital stationary night blindness;HP:0007642; Retinal dystrophy;HP:0000556 False 3 0;0;0 0.23 False ENSG00000102001 ENSG00000102001 HGNC:1393 CACNA2D4 gene CACNA2D4 Expert Review Green;Royal Melbourne Hospital Congenital Stationary Night Blindness Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinal cone dystrophy 4, 610478;Congenital Stationary Night Blindness Congenital stationary night blindness;HP:0007642; Retinal dystrophy;HP:0000556 False 3 0;0;0 0.23 False ENSG00000151062 ENSG00000151062 HGNC:20202 CHM gene CHM Expert Review Green;Royal Melbourne Hospital Congenital Stationary Night Blindness 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) Congenital stationary night blindness;HP:0007642; Retinal dystrophy;HP:0000556 False 3 0;0;0 0.23 False ENSG00000188419 ENSG00000188419 HGNC:1940 GNAT1 gene GNAT1 Expert Review Green;Royal Melbourne Hospital Congenital Stationary Night Blindness Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Night blindness, congenital stationary, autosomal dominant 3, 610444 Congenital stationary night blindness;HP:0007642; Retinal dystrophy;HP:0000556 False 3 100;0;0 0.23 False ENSG00000114349 ENSG00000114349 HGNC:4393 GNB3 gene GNB3 Expert Review Green;Royal Melbourne Hospital Congenital Stationary Night Blindness Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary, type 1H, MIM# 617024 Congenital stationary night blindness;HP:0007642; Retinal dystrophy;HP:0000556 27063057;17065478 False 3 100;0;0 0.23 True ENSG00000111664 ENSG00000111664 HGNC:4400 GPR179 gene GPR179 Expert Review Green;Royal Melbourne Hospital Congenital Stationary Night Blindness Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 Congenital stationary night blindness;HP:0007642; Retinal dystrophy;HP:0000556 22325361 False 3 100;0;0 0.23 True ENSG00000188888 ENSG00000277399 HGNC:31371 GRK1 gene GRK1 Expert Review Green;Royal Melbourne Hospital Congenital Stationary Night Blindness Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Oguchi disease-2, 613411 Congenital stationary night blindness;HP:0007642; Retinal dystrophy;HP:0000556 17070587;33252155 False 3 100;0;0 0.23 True ENSG00000185974 ENSG00000185974 HGNC:10013 GRM6 gene GRM6 Expert Review Green;Royal Melbourne Hospital Congenital Stationary Night Blindness Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 Congenital stationary night blindness;HP:0007642; Retinal dystrophy;HP:0000556 22008250 False 3 100;0;0 0.23 True ENSG00000113262 ENSG00000113262 HGNC:4598 LRIT3 gene LRIT3 Expert Review Green;Royal Melbourne Hospital Congenital Stationary Night Blindness Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 Congenital stationary night blindness;HP:0007642; Retinal dystrophy;HP:0000556 23246293;24598786;31578364;27428514 False 3 100;0;0 0.23 True ENSG00000183423 ENSG00000183423 HGNC:24783 NYX gene NYX Expert Review Green;Royal Melbourne Hospital Congenital Stationary Night Blindness Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Night blindness, congenital stationary (complete), 1A, X-linked, 310500 Congenital stationary night blindness;HP:0007642; Retinal dystrophy;HP:0000556 11062471;11062472;16670814;23714322;34064005;34165036 False 3 100;0;0 0.23 True ENSG00000188937 ENSG00000188937 HGNC:8082 PDE6B gene PDE6B Expert Review Green;Royal Melbourne Hospital Congenital Stationary Night Blindness Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Night blindness, congenital stationary, autosomal dominant 2, 163500;Retinitis pigmentosa Congenital stationary night blindness;HP:0007642; Retinal dystrophy;HP:0000556 17044014;24760071;8075643 False 3 100;0;0 0.23 True ENSG00000133256 ENSG00000133256 HGNC:8786 RDH5 gene RDH5 Expert Review Green;Royal Melbourne Hospital Congenital Stationary Night Blindness Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Fundus albipunctatus (MIM#136880);Congenital Stationary Night Blindness Congenital stationary night blindness;HP:0007642; Retinal dystrophy;HP:0000556 15790919;14718298;11812441;10369264;32232344 False 3 100;0;0 0.23 True ENSG00000135437 ENSG00000135437 HGNC:9940 RHO gene RHO Expert Review Green;Royal Melbourne Hospital Congenital Stationary Night Blindness Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis punctata albescens;Retinitis pigmentosa;Night blindness, congenital stationary autosomal dominant 1 Congenital stationary night blindness;HP:0007642; Retinal dystrophy;HP:0000556 False 3 0;0;0 0.23 False ENSG00000163914 ENSG00000163914 HGNC:10012 RIMS2 gene RIMS2 Expert Review Green;Literature Congenital Stationary Night Blindness Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "nystagmus;retinal dysfunction;autism;night blindness;Cone-rod synaptic disorder syndrome, congenital nonprogressive , MIM#618970" Congenital stationary night blindness;HP:0007642; Retinal dystrophy;HP:0000556 32470375 False 3 100;0;0 0.23 True ENSG00000176406 ENSG00000176406 HGNC:17283 RPE65 gene RPE65 Expert Review Green;Royal Melbourne Hospital Congenital Stationary Night Blindness Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 20;Leber congenital amaurosis 2, 204100;Leber Congenital Amaurosis;Leber congenital amaurosis 2 Congenital stationary night blindness;HP:0007642; Retinal dystrophy;HP:0000556 False 3 0;0;0 0.23 False ENSG00000116745 ENSG00000116745 HGNC:10294 SAG gene SAG Expert Review Green;Royal Melbourne Hospital Congenital Stationary Night Blindness Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Oguchi disease-1, MIM# 258100 Congenital stationary night blindness;HP:0007642; Retinal dystrophy;HP:0000556 7670478;9565049;15234147 False 3 100;0;0 0.23 True ENSG00000130561 ENSG00000130561 HGNC:10521 SLC24A1 gene SLC24A1 Expert Review Green;Royal Melbourne Hospital Congenital Stationary Night Blindness Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 Congenital stationary night blindness;HP:0007642; Retinal dystrophy;HP:0000556 False 3 0;0;0 0.23 False ENSG00000074621 ENSG00000074621 HGNC:10975 TRPM1 gene TRPM1 Expert Review Green;Royal Melbourne Hospital Congenital Stationary Night Blindness Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 Congenital stationary night blindness;HP:0007642; Retinal dystrophy;HP:0000556 False 3 0;0;0 0.23 False ENSG00000134160 ENSG00000134160 HGNC:7146