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 ADAMTS1 gene ADAMTS1 Expert Review Red;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Nonsyndromic genetic hearing loss MONDO:0019497, ADAMTS1-related Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 34135477 False 1 0;0;100 1.361 True ENSG00000154734 ENSG00000154734 HGNC:217 ADCY1 gene ADCY1 Expert Review Red;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 44, MIM# 610154 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 24482543 False 1 0;0;100 1.361 True ENSG00000164742 ENSG00000164742 HGNC:232 ANKRD24 gene ANKRD24 Expert Review Red;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal sensorineural hearing loss disorder MONDO:0020678, ANKRD24-related Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 PMID: 39434538 False 1 0;0;100 1.361 True ENSG00000089847 ENSG00000089847 HGNC:29424 BDP1 gene BDP1 Expert Review Red;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 112, MIM#618257 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 24312468;25060281 False 1 0;0;100 1.361 True ENSG00000145734 ENSG00000145734 HGNC:13652 CATSPER2 gene CATSPER2 Expert Review Red;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders Unknown Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 False 1 0;0;100 1.361 True ENSG00000166762 ENSG00000166762 HGNC:18810 CEMIP gene CEMIP ClinGen;Expert Review Red Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Nonsyndromic genetic hearing loss, MONDO:0019497 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 False 1 0;0;100 1.361 True ENSG00000103888 ENSG00000103888 HGNC:29213 CENPP gene CENPP Expert Review Red;Literature Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autosomal dominant nonsyndromic hearing loss;MONDO:0019587 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 36071244 False 1 0;0;100 1.361 True ENSG00000188312 ENSG00000188312 HGNC:32933 CNRIP1 gene CNRIP1 Expert Review Red;Literature Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Deafness, autosomal dominant 58 MIM#615654" Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 32337552;19159392 False 1 0;0;100 1.361 True ENSG00000119865 ENSG00000119865 HGNC:24546 DCDC2 gene DCDC2 Expert list;Expert Review Red Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 66, MIM# 610212" Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 25601850;22558177;25130614 False 1 0;0;100 1.361 True ENSG00000146038 ENSG00000146038 HGNC:18141 ELMOD3 gene ELMOD3 Expert Review Red;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 recessive 88, MIM# 615429;Deafness, autosomal dominant 81, MIM# 619500 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 24039609;31628468;30284680;29713870 False 1 0;0;100 1.361 True ENSG00000115459 ENSG00000115459 HGNC:26158 ESRP1 gene ESRP1 Expert list;Expert Review Red Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 109, MIM# 618013" Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 29107558 False 1 0;50;50 1.361 True ENSG00000104413 ENSG00000104413 HGNC:25966 FOXL1 gene FOXL1 Expert Review Red;Literature Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Otosclerosis 11 #MIM620576 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 PMID: 34633540 False 1 0;0;100 1.361 True ENSG00000176678 ENSG00000176678 HGNC:3817 GAB1 gene GAB1 Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal hearing loss, autosomal recessive MONDO:0019588 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 29408807 False 1 0;0;100 1.361 False ENSG00000109458 ENSG00000109458 HGNC:4066 GJA1 gene GJA1 ClinGen;Expert Review Red Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nonsyndromic genetic hearing loss, MONDO:0019497 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 False 1 0;0;100 1.361 True ENSG00000152661 ENSG00000152661 HGNC:4274 GJB3 gene GJB3 Expert Review Red;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 2B, MIM# 612644 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 9843210 False 1 0;0;100 1.361 True ENSG00000188910 ENSG00000188910 HGNC:4285 GJB4 gene GJB4 Expert Review Red;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders Unknown Deafness Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 False 1 0;0;100 1.361 True ENSG00000189433 ENSG00000189433 HGNC:4286 GOSR2 gene GOSR2 Expert Review;Expert Review Red Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal hearing loss, autosomal recessive, MONDO:0019588, GOSR2-related Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 37074134 False 1 0;0;100 1.361 True ENSG00000108433 ENSG00000108433 HGNC:4431 GPRASP2 gene GPRASP2 Expert Review Red;Literature Deafness_IsolatedAndComplex Hearing and ear disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome MONDO:0044702 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 28096187;41688572 False 1 0;0;100 1.361 False ENSG00000158301 ENSG00000158301 HGNC:25169 GRAP gene GRAP Expert list;Expert Review Red Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 114, MIM# 618456" Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 30610177 False 1 0;0;100 1.361 True ENSG00000154016 ENSG00000154016 HGNC:4562 HARS gene HARS Expert Review Red;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome type 3B, MIM# 614504 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 22279524 False 1 0;0;100 1.361 True ENSG00000170445 ENSG00000170445 HGNC:4816 MAP3K1 gene MAP3K1 Expert Review Red;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Hearing loss disorder, MONDO:0005365, MAP3K1-related Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 39062623 False 1 0;0;100 1.361 True ENSG00000095015 ENSG00000095015 HGNC:6848 MCM2 gene MCM2 Expert list;Expert Review Red Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 70, MIM# 616968 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 26196677;35652205;40069133 False 1 0;0;100 1.361 True ENSG00000073111 ENSG00000073111 HGNC:6944 MET gene MET Expert list;Expert Review Red Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 97, MIM# 616705" Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 25941349;31801140 False 1 0;0;100 1.361 True ENSG00000105976 ENSG00000105976 HGNC:7029 MPDZ gene MPDZ Expert Review Red;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Nonsyndromic genetic hearing loss MONDO:0019497, MPDZ-related Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 34135477;29026089 False 1 0;100;0 1.361 True ENSG00000107186 ENSG00000107186 HGNC:7208 MPZ gene MPZ Expert Review Red;Literature Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Syndromic auditory neuropathy spectrum disorder Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 21176974;12845552;12805115 False 1 0;0;100 1.361 True ENSG00000158887 ENSG00000158887 HGNC:7225 MVD gene MVD Expert Review Red;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Nonsyndromic genetic hearing loss MONDO:0019497, MPDZ-related Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 34135477 False 1 0;0;100 1.361 True ENSG00000167508 ENSG00000167508 HGNC:7529 MYO1A gene MYO1A ClinGen;Expert Review Red Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nonsyndromic genetic hearing loss, MONDO:0019497 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 False 1 0;0;100 1.361 True ENSG00000166866 ENSG00000166866 HGNC:7595 MYO1C gene MYO1C ClinGen;Expert Review Red Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nonsyndromic genetic hearing loss, MONDO:0019497 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 False 1 0;0;100 1.361 True ENSG00000197879 ENSG00000197879 HGNC:7597 MYO1F gene MYO1F ClinGen Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nonsyndromic genetic hearing loss, MONDO:0019497 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 False 1 0;0;100 1.361 False ENSG00000142347 ENSG00000142347 HGNC:7600 MYO1F gene MYO1F ClinGen Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nonsyndromic genetic hearing loss, MONDO:0019497 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 False 1 0;0;100 1.361 False ENSG00000142347 ENSG00000142347 HGNC:7600 NAT6 gene NAT6 Expert Review Red;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Auroneurodental syndrome, MIM# 620830" Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 34805998 False 1 0;0;100 1.361 True ENSG00000243477 ENSG00000243477 HGNC:30252 NCOA3 gene NCOA3 Expert Review Red;Literature Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Non-syndromic hearing loss Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 33326993 False 1 0;0;100 1.361 True ENSG00000124151 ENSG00000124151 HGNC:7670 NEU4 gene NEU4 Expert Review Red;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Hearing loss disorder, MONDO:0005365, NEU4-related Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 41833579 False 1 0;0;100 1.361 True ENSG00000204099 ENSG00000204099 HGNC:21328 NR2F1 gene NR2F1 Expert Review Red;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 19353646;24462372 False 1 0;0;100 1.361 True ENSG00000175745 ENSG00000175745 HGNC:7975 PBXIP1 gene PBXIP1 Expert Review Red;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal non-syndromic genetic hearing loss, MONDO:0019497, PBXIP1-related Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 39786576;38947059 False 1 0;0;100 1.361 True ENSG00000163346 ENSG00000163346 HGNC:21199 PCDH9 gene PCDH9 Expert Review Red;Literature Deafness_IsolatedAndComplex Hearing and ear disorders Unknown Non-syndromic auditory neuropathy spectrum disorder Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 21176974 False 1 0;0;100 1.361 True ENSG00000184226 ENSG00000184226 HGNC:8661 PDE1C gene PDE1C Literature Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autosomal dominant nonsyndromic hearing loss MONDO:0019587 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 29860631 False 1 0;0;100 1.361 False ENSG00000154678 ENSG00000154678 HGNC:8776 SCD5 gene SCD5 Expert list;Expert Review Red Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 79, MIM#619086 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 31972369 False 1 0;0;100 1.361 True ENSG00000145284 ENSG00000145284 HGNC:21088 SEC24C gene SEC24C Expert Review Red;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, SEC24C-related Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 40131364 False 1 0;0;100 1.361 True ENSG00000176986 ENSG00000176986 HGNC:10705 SEZ6 gene SEZ6 Expert Review Red;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Nonsyndromic genetic hearing loss MONDO:0019497, SEZ6-related Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 34135477 False 1 0;0;100 1.361 True ENSG00000063015 ENSG00000063015 HGNC:15955 SIX5 gene SIX5 Expert Review Red;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiootorenal syndrome 2, MIM#610896 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 17357085;24429398;21280147;14704431;17357085;11950062 False 1 0;0;100 1.361 True ENSG00000177045 ENSG00000177045 HGNC:10891 SLC44A4 gene SLC44A4 Literature Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted nonsyndromic genetic hearing loss MONDO:0019497 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 28013291 False 1 0;0;100 1.361 False ENSG00000204385 ENSG00000204385 HGNC:13941 SMARCA4 gene SMARCA4 Expert Review Red;Literature Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Otosclerosis MONDO:0005349, SMARCA4-related Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 37399313 False 1 0;100;0 1.361 True ENSG00000127616 ENSG00000127616 HGNC:11100 TBC1D8 gene TBC1D8 Expert Review Red;Literature Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted non-syndromic hearing loss MONDO:0019587 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 35248088 False 1 0;0;100 1.361 False ENSG00000204634 ENSG00000204634 HGNC:17791 TBL1Y gene TBL1Y Expert Review Red;Literature Deafness_IsolatedAndComplex Hearing and ear disorders Other Deafness, Y-linked 2, MIM# 400047 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 30341416 False 1 0;0;100 1.361 True ENSG00000092377 ENSG00000092377 HGNC:18502 TECTB gene TECTB Expert Review Red;Literature Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hearing loss disorder, MONDO:0005365, TECTB-related Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 40832383 False 1 0;0;100 1.361 True ENSG00000119913 ENSG00000119913 HGNC:11721 TJP2 gene TJP2 Expert Review Red;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 24752540;20602916;18616530 False 1 0;0;100 1.361 True ENSG00000119139 ENSG00000119139 HGNC:11828 TMEM132E gene TMEM132E Expert list;Expert Review Red Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 99, MIM# 618481" Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 25331638 False 1 0;100;0 1.361 True ENSG00000181291 ENSG00000181291 HGNC:26991 TMTC2 gene TMTC2 Expert Review Red;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; Sensorineural hearing impairment HP:0000407 29671961;27311106;37943620;30188326 False 1 0;0;100 1.361 True ENSG00000179104 ENSG00000179104 HGNC:25440 TMTC4 gene TMTC4 Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal hearing loss, autosomal recessive MONDO:0019588 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 37943620 False 1 0;0;100 1.361 False ENSG00000125247 ENSG00000125247 HGNC:25904 TOGARAM2 gene TOGARAM2 Expert Review Red;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Nonsyndromic genetic hearing loss (MONDO:0019497), TOGARAM2-related Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 PMID:38374469 False 1 0;0;100 1.361 True ENSG00000189350 ENSG00000189350 HGNC:33715 TRRAP gene TRRAP Expert Review Red;Literature Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Deafness, autosomal dominant 75 MIM#618778 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 PMID: 31231791 False 1 0;0;100 1.361 True ENSG00000196367 ENSG00000196367 HGNC:12347 TSPEAR gene TSPEAR Expert Review Red;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 98, MIM#614861 Hearing impairment;HP:0000365; Sensorineural hearing impairment HP:0000407 22678063;26969326 False 1 0;0;100 1.361 True ENSG00000175894 ENSG00000175894 HGNC:1268