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 CACNA1D gene CACNA1D Expert Review Amber;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Sinoatrial node dysfunction and deafness, MIM# 614896 Hearing impairment;HP:0000365 21131953;15357422;22678062 False 2 0;100;0 1.85 True ENSG00000157388 ENSG00000157388 HGNC:1391 CCDC50 gene CCDC50 Expert Review Amber;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Deafness, autosomal dominant 44, MIM# 607453;Childhood onset deafness, progressive" Hearing impairment;HP:0000365 24875298;27911912;17503326 False 2 0;100;0 1.85 True ENSG00000152492 ENSG00000152492 HGNC:18111 CLRN2 gene CLRN2 Expert Review Amber;Literature Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Non-syndromic hearing loss;Deafness, autosomal recessive 117, MIM# 619174" Hearing impairment;HP:0000365 33496845 False 2 0;100;0 1.85 True ENSG00000249581 ENSG00000249581 HGNC:33939 DIABLO gene DIABLO Expert Review Amber;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Deafness, autosomal dominant 64, MIM# 614152" Hearing impairment;HP:0000365 10929711;21722859;26969326 False 2 0;0;100 1.85 True ENSG00000184047 ENSG00000184047 HGNC:21528 DIAPH3 gene DIAPH3 Expert Review Amber;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Auditory neuropathy, autosomal dominant, 1, MIM#609129 Hearing impairment;HP:0000365 20624953;23441200;27658576 False 2 0;0;100 1.85 True ENSG00000139734 ENSG00000139734 HGNC:15480 GAS2 gene GAS2 Expert Review Amber;Literature Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 125, MIM#620877 Hearing impairment;HP:0000365 33964205 False 2 0;100;0 1.85 True ENSG00000148935 ENSG00000148935 HGNC:4167 KITLG gene KITLG Expert list;Expert Review Amber Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697" Hearing impairment;HP:0000365 26522471 False 2 0;100;0 1.85 True ENSG00000049130 ENSG00000049130 HGNC:6343 MEPE gene MEPE Expert Review;Expert Review Amber Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nonsyndromic genetic hearing loss, MONDO:0019497, MEPE-related;hereditary congenital facial paresis;otosclerosis Hearing impairment;HP:0000365 30287925 False 2 0;100;0 1.85 True ENSG00000152595 ENSG00000152595 HGNC:13361 MIR96 gene MIR96 Expert Review Amber;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 50, MIM# 613074 Hearing impairment;HP:0000365 19363479;29325119 False 2 0;100;0 1.85 True ENSG00000199158 ENSG00000199158 HGNC:31648 NARS2 gene NARS2 Expert list;Expert Review Amber Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 94, MIM#618434 Hearing impairment;HP:0000365 25807530 False 2 0;100;0 1.85 True ENSG00000137513 ENSG00000137513 HGNC:26274 PPIP5K2 gene PPIP5K2 Expert list;Expert Review Amber Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 100, MIM# 618422" Hearing impairment;HP:0000365 29590114 False 2 0;100;0 1.85 True ENSG00000145725 ENSG00000145725 HGNC:29035 REST gene REST Expert list;Expert Review Amber Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 27, MIM# 612431 Hearing impairment;HP:0000365 29961578;34828371 False 2 0;100;0 1.85 True ENSG00000084093 ENSG00000084093 HGNC:9966 RIPOR2 gene RIPOR2 Expert list;Expert Review Amber Deafness_Isolated Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Deafness, autosomal recessive 104, MIM# 616515;Deafness, autosomal dominant 21, MIM# 607017" Hearing impairment;HP:0000365 24958875;32631815 False 2 0;100;0 1.85 True ENSG00000111913 ENSG00000111913 HGNC:13872 ROR1 gene ROR1 Expert list;Expert Review Amber Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 108, MIM# 617654" Hearing impairment;HP:0000365 27162350 False 2 0;100;0 1.85 True ENSG00000185483 ENSG00000185483 HGNC:10256 SLC26A5 gene SLC26A5 Expert list;Expert Review Amber Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 61, MIM# 613865" Hearing impairment;HP:0000365 26969326;24164807;12239568;10821263;11423665;12719379;18466744;27091614;17998209 False 2 0;100;0 1.85 True ENSG00000170615 ENSG00000170615 HGNC:9359 SNAI2 gene SNAI2 Expert Review Amber;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Waardenburg syndrome, type 2D, MIM# 608890 Hearing impairment;HP:0000365 30936914;12444107 False 2 0;100;0 1.85 True ENSG00000019549 ENSG00000019549 HGNC:11094 SPATC1L gene SPATC1L Expert list;Expert Review Amber Deafness_Isolated Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness Hearing impairment;HP:0000365 30177775 False 2 0;100;0 1.85 True ENSG00000160284 ENSG00000160284 HGNC:1298 SPNS2 gene SPNS2 Expert list;Expert Review Amber Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 115, MIM# 618457" Hearing impairment;HP:0000365 30973865;25356849 False 2 0;100;0 1.85 True ENSG00000183018 ENSG00000183018 HGNC:26992 STX4 gene STX4 Expert Review Amber;Literature Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 123, MIM# 620745 Hearing impairment;HP:0000365 36355422 False 2 0;100;0 1.85 True ENSG00000103496 ENSG00000103496 HGNC:11439 TMEM132E gene TMEM132E Expert list;Expert Review Amber Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 99, MIM# 618481" Hearing impairment;HP:0000365 25331638 False 2 0;100;0 1.85 True ENSG00000181291 ENSG00000181291 HGNC:26991 TMEM43 gene TMEM43 Expert Review Amber;Literature Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Auditory neuropathy, autosomal dominant 3, MIM# 619832" Hearing impairment;HP:0000365 34050020 False 2 0;100;0 1.85 True ENSG00000170876 ENSG00000170876 HGNC:28472 TNC gene TNC Expert Review Amber;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 56, MIM# 615629 Hearing impairment;HP:0000365 23936043;34093110;33763067 False 2 0;100;0 1.85 True ENSG00000041982 ENSG00000041982 HGNC:5318 TOP2B gene TOP2B Expert Review Amber;Literature Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autosomal dominant deafness Hearing impairment;HP:0000365 31198993 False 2 0;100;0 1.85 True ENSG00000077097 ENSG00000077097 HGNC:11990 WBP2 gene WBP2 Expert list;Expert Review Amber Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 107, MIM# 617639" Hearing impairment;HP:0000365 26881968 False 2 0;100;0 1.85 True ENSG00000132471 ENSG00000132471 HGNC:12738