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 31273342 False 2 50;50;0 1.210 True ENSG00000103222 ENSG00000103222 HGNC:51 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 21131953;15357422;22678062 False 2 0;100;0 1.210 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 17503326;27911912;24875298 False 2 0;100;0 1.210 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 15265795;29138120 False 2 0;100;0 1.210 True ENSG00000177697 ENSG00000177697 HGNC:1630 CLIC5 gene CLIC5 Expert Review Amber;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 103, MIM# 616042 Hearing impairment;HP:0000365 24781754;17021174 False 2 0;100;0 1.210 True ENSG00000112782 ENSG00000112782 HGNC:13517 CLRN2 gene CLRN2 Expert Review Amber;Literature Deafness_IsolatedAndComplex 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 1.210 True ENSG00000249581 ENSG00000249581 HGNC:33939 COL4A6 gene COL4A6 Expert Review Amber;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Deafness, X-linked 6, MIM# 300914 Hearing impairment;HP:0000365 23714752;33840813 False 2 50;50;0 1.210 True ENSG00000197565 ENSG00000197565 HGNC:2208 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 21722859;10929711;26969326 False 2 0;0;100 1.210 True ENSG00000184047 ENSG00000184047 HGNC:21528 DIAPH3 gene DIAPH3 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 Auditory neuropathy, autosomal dominant, 1, MIM#609129 Hearing impairment;HP:0000365 23441200;20624953;27658576 False 2 0;0;100 1.210 True ENSG00000139734 ENSG00000139734 HGNC:15480 DSPP gene DSPP 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 39, with dentinogenesis, MIM# 605594" Hearing impairment;HP:0000365 29741433;11175790 False 2 0;100;0 1.210 True ENSG00000152591 ENSG00000152591 HGNC:3054 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 35149593 False 2 0;100;0 1.210 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 28449065 False 2 0;100;0 1.210 True ENSG00000132591 ENSG00000132591 HGNC:3424 ESRP1 gene ESRP1 Expert list;Expert Review Amber Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 109, MIM# 618013" Hearing impairment;HP:0000365 29107558 False 2 0;100;0 1.210 True ENSG00000104413 ENSG00000104413 HGNC:25966 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 PMID: 32424618 False 2 0;100;0 1.210 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 20610440;19383632;15202026;36928819 False 2 0;100;0 1.210 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 30561639;22022403 False 2 0;100;0 1.210 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 33964205 False 2 0;100;0 1.210 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 26077850;33500254;34815294 False 2 0;100;0 1.210 True ENSG00000145050 ENSG00000145050 HGNC:15461 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 19363479;29325119 False 2 0;100;0 1.210 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 PMID: 36067766 False 2 0;100;0 1.210 True ENSG00000132613 ENSG00000132613 HGNC:25094 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 32533184;33668384 False 2 0;100;0 1.210 True ENSG00000173614 ENSG00000173614 HGNC:17877 PAX2 gene PAX2 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 "Papillorenal syndrome, MIM# 120330" Hearing impairment;HP:0000365 16971658;8588587 False 2 0;100;0 1.210 True ENSG00000075891 ENSG00000075891 HGNC:8616 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 33285023 False 2 0;100;0 1.210 True ENSG00000148459 ENSG00000148459 HGNC:17759 PMP22 gene PMP22 Expert Review Amber;Expert Review Green;Literature;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, type 1E 118300 Hearing impairment;HP:0000365 8355122;10330345;12578939 False 2 50;50;0 1.210 True ENSG00000109099 ENSG00000109099 HGNC:9118 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 29590114 False 2 0;100;0 1.210 True ENSG00000145725 ENSG00000145725 HGNC:29035 PSMC3 gene PSMC3 Expert Review Amber;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354 Hearing impairment;HP:0000365 32500975 False 2 0;100;0 1.210 True ENSG00000165916 ENSG00000165916 HGNC:9549 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 24958875;32631815 False 2 0;100;0 1.210 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 27162350 False 2 0;100;0 1.210 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 24164807;26969326;12239568;10821263;11423665;12719379;18466744;27091614;17998209 False 2 0;100;0 1.210 True ENSG00000170615 ENSG00000170615 HGNC:9359 SLC9A1 gene SLC9A1 Expert list;Expert Review Amber Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Lichtenstein-Knorr syndrome, MIM# 616291 Hearing impairment;HP:0000365 25205112;30018422;25760855 False 2 0;100;0 1.210 True ENSG00000090020 ENSG00000090020 HGNC:11071 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 12444107;30936914 False 2 0;100;0 1.210 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 30262714;16932809;16145681 False 2 0;100;0 1.210 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 Deafness Hearing impairment;HP:0000365 30177775 False 2 0;100;0 1.210 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 PMID: 33596411 False 2 0;100;0 1.210 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 30973865;25356849 False 2 0;100;0 1.210 True ENSG00000183018 ENSG00000183018 HGNC:26992 THOC1 gene THOC1 Expert Review Amber;Literature Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nonsyndromic hearing loss Hearing impairment;HP:0000365 32776944 False 2 0;100;0 1.210 True ENSG00000079134 ENSG00000079134 HGNC:19070 TMEM132E gene TMEM132E Expert list;Expert Review Amber Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 99, MIM# 618481" Hearing impairment;HP:0000365 25331638 False 2 0;100;0 1.210 True ENSG00000181291 ENSG00000181291 HGNC:26991 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 34050020 False 2 0;100;0 1.210 True ENSG00000170876 ENSG00000170876 HGNC:28472 TMTC2 gene TMTC2 Expert Review Amber;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal dominant;Deafness, autosomal recessive 122, MIM# 620714 Hearing impairment;HP:0000365 29671961;27311106;37943620;30188326 False 2 0;100;0 1.210 True ENSG00000179104 ENSG00000179104 HGNC:25440 TNC gene TNC 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 56, MIM# 615629 Hearing impairment;HP:0000365 23936043 False 2 0;100;0 1.210 True ENSG00000041982 ENSG00000041982 HGNC:5318 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 31198993 False 2 0;100;0 1.210 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 30250217;32124521;33075013 False 2 0;100;0 1.210 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 26881968 False 2 0;100;0 1.210 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 30639322 False 2 100;0;0 1.210 True ENSG00000108175 ENSG00000108175 HGNC:16493