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_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Nonsyndromic genetic hearing loss MONDO:0019497, ADAMTS1-related Hearing impairment;HP:0000365 34135477 False 1 0;0;100 1.85 True ENSG00000154734 ENSG00000154734 HGNC:217 ANKRD24 gene ANKRD24 Expert Review Red;Literature Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal sensorineural hearing loss disorder MONDO:0020678, ANKRD24-related Hearing impairment;HP:0000365 PMID: 39434538 False 1 0;0;100 1.85 True ENSG00000089847 ENSG00000089847 HGNC:29424 CEACAM16 gene CEACAM16 Expert Review Green;Expert Review Red;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal dominant 4B, MIM# 614614;Deafness, autosomal recessive 113, MIM# 618410 Hearing impairment;HP:0000365 25589040;21368133;22544735;31249509;29703829;30514912 False 1 50;0;50 1.85 True ENSG00000213892 ENSG00000213892 HGNC:31948 CENPP gene CENPP Expert Review Red;Literature Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autosomal dominant nonsyndromic hearing loss;MONDO:0019587 Hearing impairment;HP:0000365 36071244 False 1 0;0;100 1.85 True ENSG00000188312 ENSG00000188312 HGNC:32933 ELMOD3 gene ELMOD3 Expert Review Red;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal dominant 81, MIM# 619500;Deafness, autosomal recessive 88, MIM# 615429 Hearing impairment;HP:0000365 31628468;30284680;24039609;29713870 False 1 0;0;100 1.85 True ENSG00000115459 ENSG00000115459 HGNC:26158 ESRP1 gene ESRP1 Expert list;Expert Review Red Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 109, MIM# 618013" Hearing impairment;HP:0000365 29107558 False 1 0;50;50 1.85 True ENSG00000104413 ENSG00000104413 HGNC:25966 FOXI1 gene FOXI1 Expert Review Red;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal enlarged vestibular aqueduct syndrome MONDO:0023069 Hearing impairment;HP:0000365 9843211;29242249;17503324 False 1 50;0;50 1.85 True ENSG00000168269 ENSG00000168269 HGNC:3815 FOXL1 gene FOXL1 Expert Review Red;Literature Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Otosclerosis 11 #MIM620576 Hearing impairment;HP:0000365 PMID: 34633540 False 1 0;0;100 1.85 True ENSG00000176678 ENSG00000176678 HGNC:3817 GOSR2 gene GOSR2 Expert Review;Expert Review Red Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal hearing loss, autosomal recessive, MONDO:0019588, GOSR2-related Hearing impairment;HP:0000365 37074134 False 1 0;0;100 1.85 True ENSG00000108433 ENSG00000108433 HGNC:4431 MAP3K1 gene MAP3K1 Expert Review Red;Literature Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Hearing loss disorder, MONDO:0005365, MAP3K1-related Hearing impairment;HP:0000365 39062623 False 1 0;0;100 1.85 True ENSG00000095015 ENSG00000095015 HGNC:6848 MPDZ gene MPDZ Expert Review Red;Literature Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Nonsyndromic genetic hearing loss MONDO:0019497, MPDZ-related Hearing impairment;HP:0000365 34135477;29026089 False 1 0;100;0 1.85 True ENSG00000107186 ENSG00000107186 HGNC:7208 MVD gene MVD Expert Review Red;Literature Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Nonsyndromic genetic hearing loss MONDO:0019497, MPDZ-related Hearing impairment;HP:0000365 34135477 False 1 0;0;100 1.85 True ENSG00000167508 ENSG00000167508 HGNC:7529 NCOA3 gene NCOA3 Expert Review Red;Literature Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Non-syndromic hearing loss Hearing impairment;HP:0000365 33326993 False 1 0;0;100 1.85 True ENSG00000124151 ENSG00000124151 HGNC:7670 SEZ6 gene SEZ6 Expert Review Red;Literature Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Nonsyndromic genetic hearing loss MONDO:0019497, SEZ6-related Hearing impairment;HP:0000365 34135477 False 1 0;0;100 1.85 True ENSG00000063015 ENSG00000063015 HGNC:15955 SMARCA4 gene SMARCA4 Expert Review Red;Literature Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Otosclerosis MONDO:0005349, SMARCA4-related Hearing impairment;HP:0000365 37399313 False 1 0;100;0 1.85 True ENSG00000127616 ENSG00000127616 HGNC:11100 TECTB gene TECTB Expert Review Red;Literature Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hearing loss disorder, MONDO:0005365, TECTB-related Hearing impairment;HP:0000365 40832383 False 1 0;0;100 1.85 True ENSG00000119913 ENSG00000119913 HGNC:11721 TMTC2 gene TMTC2 Expert Review Red;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1 0;0;100 1.85 True ENSG00000179104 ENSG00000179104 HGNC:25440 TOGARAM2 gene TOGARAM2 Expert Review Red;Literature Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Nonsyndromic genetic hearing loss (MONDO:0019497), TOGARAM2-related Hearing impairment;HP:0000365 PMID:38374469 False 1 0;0;100 1.85 True ENSG00000189350 ENSG00000189350 HGNC:33715 TRRAP gene TRRAP Expert Review Red;Literature Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Deafness, autosomal dominant 75 MIM#618778 Hearing impairment;HP:0000365 PMID: 31231791 False 1 0;0;100 1.85 True ENSG00000196367 ENSG00000196367 HGNC:12347 POU3F4 upstream regulatory region region Literature;Literature Deafness_Isolated Hearing and ear disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Deafness, X-linked 2 MIM#304400 Hearing impairment;HP:0000365 PMID: 41170199, 35189936, 33860785 False 1 0;100;0 1.85 False X 81596036 83342824 70 cnv_loss POU3F4 upstream regulatory region