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 ABCC1 gene ABCC1 Expert Review;Expert Review Amber Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nonsyndromic hearing loss;Deafness-77, autosomal dominant (DFNA77), MIM#618915 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 31273342 False 2 50;50;0 1.361 True ENSG00000103222 ENSG00000103222 HGNC:51 ATF6 gene ATF6 Expert Review Amber;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal ATF6-related retinopathy MONDO:0100447 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 39570676 False 2 0;100;0 1.361 True ENSG00000118217 ENSG00000118217 HGNC:791 CACNA1D gene CACNA1D Expert Review Amber;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Sinoatrial node dysfunction and deafness, MIM# 614896 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 21131953;15357422;22678062 False 2 0;100;0 1.361 True ENSG00000157388 ENSG00000157388 HGNC:1391 CCDC50 gene CCDC50 Expert Review Amber;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Deafness, autosomal dominant 44, MIM# 607453;Childhood onset deafness, progressive" Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 17503326;27911912;24875298 False 2 0;100;0 1.361 True ENSG00000152492 ENSG00000152492 HGNC:18111 CD151 gene CD151 Expert Review Amber;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 15265795;29138120 False 2 0;100;0 1.361 True ENSG00000177697 ENSG00000177697 HGNC:1630 DIABLO gene DIABLO Expert Review Amber;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Deafness, autosomal dominant 64, MIM# 614152" Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 21722859;10929711;26969326 False 2 0;0;100 1.361 True ENSG00000184047 ENSG00000184047 HGNC:21528 DLX5 gene DLX5 Expert Review Amber;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Split-hand/foot malformation 1 with sensorineural hearing loss, MIM# 220600" Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 41760400;22121204 False 2 0;100;0 1.361 True ENSG00000105880 ENSG00000105880 HGNC:2918 EHD1 gene EHD1 Expert Review Amber;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Inherited renal tubular disease, MONDO:0015962, EHD1-related Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 35149593 False 2 0;100;0 1.361 True ENSG00000110047 ENSG00000110047 HGNC:3242 ERAL1 gene ERAL1 Expert list;Expert Review Amber Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Perrault syndrome 6, MIM# 617565" Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 28449065 False 2 0;100;0 1.361 True ENSG00000132591 ENSG00000132591 HGNC:3424 FBRSL1 gene FBRSL1 Expert Review Amber;Literature Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Malformation and intellectual disability syndrome Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 PMID: 32424618 False 2 0;100;0 1.361 True ENSG00000112787 ENSG00000112787 HGNC:29308 FMN1 gene FMN1 Expert Review Amber;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Hearing loss disorder MONDO:0005365 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 20610440;19383632;15202026;36928819 False 2 0;100;0 1.361 True ENSG00000248905 ENSG00000248905 HGNC:3768 FOXF2 gene FOXF2 Expert Review Amber;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal profound sensorineural hearing loss (SNHL);cochlea malformations;incomplete partition type I anomaly of the cochlea Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 30561639;22022403 False 2 0;100;0 1.361 True ENSG00000137273 ENSG00000137273 HGNC:3810 GAS2 gene GAS2 Expert Review Amber;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 125, MIM#620877 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 33964205 False 2 0;100;0 1.361 True ENSG00000148935 ENSG00000148935 HGNC:4167 MANF gene MANF Expert Review;Expert Review Amber Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Diabetes, deafness, developmental delay, and short stature syndrome, MIM# 620651 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 26077850;33500254;34815294 False 2 0;100;0 1.361 True ENSG00000145050 ENSG00000145050 HGNC:15461 MEPE gene MEPE Expert Review;Expert Review Amber Deafness_IsolatedAndComplex 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; Sensorineural hearing impairment HP:0000407 30287925 False 2 0;100;0 1.361 True ENSG00000152595 ENSG00000152595 HGNC:13361 MIR96 gene MIR96 Expert Review Amber;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 50, MIM# 613074 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 19363479;29325119 False 2 0;100;0 1.361 True ENSG00000199158 ENSG00000199158 HGNC:31648 MTSS1L gene MTSS1L Expert Review Amber;Literature Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Intellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086" Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 PMID: 36067766 False 2 0;100;0 1.361 True ENSG00000132613 ENSG00000132613 HGNC:25094 NLRP12 gene NLRP12 Expert Review Amber;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial cold autoinflammatory syndrome 2 - MIM#611762 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 18230725;21360512;24064030;27633793;38343435 False 2 67;33;0 1.361 True ENSG00000142405 ENSG00000142405 HGNC:22938 NMNAT1 gene NMNAT1 Expert Review Amber;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 32533184;33668384 False 2 0;100;0 1.361 True ENSG00000173614 ENSG00000173614 HGNC:17877 NTN1 gene NTN1 Expert Review;Expert Review Amber Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hearing loss disorder, MONDO:0005365, NTN1-related Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 39648562 False 2 0;100;0 1.361 True ENSG00000065320 ENSG00000065320 HGNC:8029 PDSS1 gene PDSS1 Expert Review Amber;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 2, MIM# 614651 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 33285023 False 2 0;100;0 1.361 True ENSG00000148459 ENSG00000148459 HGNC:17759 PPIP5K2 gene PPIP5K2 Expert list;Expert Review Amber Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 100, MIM# 618422" Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 29590114 False 2 0;100;0 1.361 True ENSG00000145725 ENSG00000145725 HGNC:29035 REST gene REST Expert list;Expert Review Amber Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 27, MIM# 612431 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 29961578;34828371 False 2 0;100;0 1.361 True ENSG00000084093 ENSG00000084093 HGNC:9966 RIPOR2 gene RIPOR2 Expert list;Expert Review Amber Deafness_IsolatedAndComplex 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; Sensorineural hearing impairment HP:0000407 24958875;32631815 False 2 0;100;0 1.361 True ENSG00000111913 ENSG00000111913 HGNC:13872 ROR1 gene ROR1 Expert list;Expert Review Amber Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 108, MIM# 617654" Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 27162350 False 2 0;100;0 1.361 True ENSG00000185483 ENSG00000185483 HGNC:10256 SLC26A5 gene SLC26A5 Expert list;Expert Review Amber Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 61, MIM# 613865" Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 24164807;26969326;12239568;10821263;11423665;12719379;18466744;27091614;17998209 False 2 0;100;0 1.361 True ENSG00000170615 ENSG00000170615 HGNC:9359 SNAI2 gene SNAI2 Expert Review Amber;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Waardenburg syndrome, type 2D, MIM# 608890 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 12444107;30936914 False 2 0;100;0 1.361 True ENSG00000019549 ENSG00000019549 HGNC:11094 SOX2 gene SOX2 Expert Review Amber;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Anopthalmia and sensorineural hearing loss;Microphthalmia, syndromic 3 206900" Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 30262714;16932809;16145681 False 2 0;100;0 1.361 True ENSG00000181449 ENSG00000181449 HGNC:11195 SPATC1L gene SPATC1L Expert list;Expert Review Amber Deafness_IsolatedAndComplex Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hearing loss disorder, MONDO:0005365 SPATC1L-related Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 30177775 False 2 0;100;0 1.361 True ENSG00000160284 ENSG00000160284 HGNC:1298 SPEN gene SPEN Expert Review Amber;Literature Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Radio-Tartaglia syndrome MIM#619312 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 PMID: 33596411 False 2 0;100;0 1.361 True ENSG00000065526 ENSG00000065526 HGNC:17575 SPNS2 gene SPNS2 Expert list;Expert Review Amber Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 115, MIM# 618457" Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 30973865;25356849 False 2 0;100;0 1.361 True ENSG00000183018 ENSG00000183018 HGNC:26992 STX4 gene STX4 Expert Review Amber;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 123, MIM# 620745 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 36355422;35599850 False 2 0;100;0 1.361 True ENSG00000103496 ENSG00000103496 HGNC:11439 TBX2 gene TBX2 Expert Review;Expert Review Amber Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hearing loss disorder, MONDO:0005365, TBX2-related Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 20206336;22052739;21271665;https://doi.org/10.1101/2024.07.18.24310488 False 2 0;100;0 1.361 True ENSG00000121068 ENSG00000121068 HGNC:11597 THOC1 gene THOC1 Expert Review Amber;Literature Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hearing loss disorder, MONDO:0005365, THOC1-related Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 32776944 False 2 0;100;0 1.361 True ENSG00000079134 ENSG00000079134 HGNC:19070 TMEM126A gene TMEM126A Expert Review Amber;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Optic atrophy 7 MIM#612989;Syndromic auditory neuropathy spectrum disorder Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 21176974 False 2 0;100;0 1.361 True ENSG00000171202 ENSG00000171202 HGNC:25382 TMEM43 gene TMEM43 Expert Review Amber;Literature Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Auditory neuropathy, autosomal dominant 3, MIM# 619832 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 34050020 False 2 0;100;0 1.361 True ENSG00000170876 ENSG00000170876 HGNC:28472 TOP2B gene TOP2B Expert Review Amber;Literature Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autosomal dominant deafness Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 31198993 False 2 0;100;0 1.361 True ENSG00000077097 ENSG00000077097 HGNC:11990 USP53 gene USP53 Expert Review;Expert Review Amber Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, MIM# 619658 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 30250217;32124521;33075013 False 2 0;100;0 1.361 True ENSG00000145390 ENSG00000145390 HGNC:29255 WBP2 gene WBP2 Expert list;Expert Review Amber Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 107, MIM# 617639" Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 26881968 False 2 0;100;0 1.361 True ENSG00000132471 ENSG00000132471 HGNC:12738 ZMIZ1 gene ZMIZ1 Expert Review Amber;Literature Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (MIM#618659) Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 30639322 False 2 100;0;0 1.361 True ENSG00000108175 ENSG00000108175 HGNC:16493