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 ABHD12 gene ABHD12 Expert Review Amber;Expert Review Green;Literature;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674 Hearing impairment;HP:0000365 20797687;24697911 False 3 50;50;0 1.210 True ENSG00000100997 ENSG00000100997 HGNC:15868 ACOX1 gene ACOX1 Expert list;Expert Review Green Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mitchell syndrome, MIM# 618960 Hearing impairment;HP:0000365 32169171 False 3 100;0;0 1.210 True ENSG00000161533 ENSG00000161533 HGNC:119 ACTB gene ACTB Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Baraitser-Winter syndrome 1, MIM# 243310;Dystonia, juvenile-onset, MIM# 607371 Hearing impairment;HP:0000365 25052316;29788902 False 3 100;0;0 1.210 True Other ENSG00000075624 ENSG00000075624 HGNC:132 ACTG1 gene ACTG1 Expert Review Green;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 20/26, MIM# 604717 Hearing impairment;HP:0000365 13680526;14684684;16773128;19477959;19497859 False 3 100;0;0 1.210 True Other ENSG00000184009 ENSG00000184009 HGNC:144 ADGRV1 gene ADGRV1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 2C, MIM# 605472 Hearing impairment;HP:0000365 22147658;25572244;14740321 False 3 100;0;0 1.210 True ENSG00000164199 ENSG00000164199 HGNC:17416 AIFM1 gene AIFM1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Deafness, X-linked 5, MIM# 300614 Hearing impairment;HP:0000365 25986071 False 3 100;0;0 1.210 True ENSG00000156709 ENSG00000156709 HGNC:8768 AK2 gene AK2 Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Reticular dysgenesis MIM# 267500;Combined immunodeficiency;neutropaenia;leukopaenia;lymphopaenia;agranulocytosis;deafness;MONDO:0009973 Hearing impairment;HP:0000365 19043417;19043416 False 3 100;0;0 1.210 True ENSG00000004455 ENSG00000004455 HGNC:362 ALMS1 gene ALMS1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Alstrom syndrome, MIM# 203800 Hearing impairment;HP:0000365 11941369;17594715 False 3 100;0;0 1.210 True ENSG00000116127 ENSG00000116127 HGNC:428 AMMECR1 gene AMMECR1 Expert list;Expert Review Green Deafness_IsolatedAndComplex Hearing and ear disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990 Hearing impairment;HP:0000365 27811305;28089922;29193635 False 3 100;0;0 1.210 True ENSG00000101935 ENSG00000101935 HGNC:467 AP1B1 gene AP1B1 Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Keratitis-ichthyosis-deafness syndrome, autosomal recessive, MIM# 242150;Intellectual disability;enteropathy;deafness;ichthyosis;keratoderma" Hearing impairment;HP:0000365 31630788;31630791 False 3 100;0;0 1.210 True ENSG00000100280 ENSG00000100280 HGNC:554 ATP2B2 gene ATP2B2 Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 82, MIM# 619804;{Deafness, autosomal recessive 12, modifier of}, MIM# 601386 Hearing impairment;HP:0000365 30535804;15829536 False 3 100;0;0 1.210 True ENSG00000157087 ENSG00000157087 HGNC:815 ATP6V1B1 gene ATP6V1B1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300 Hearing impairment;HP:0000365 9916796;12414817;16611712;18798332 False 3 100;0;0 1.210 True ENSG00000116039 ENSG00000116039 HGNC:853 ATP6V1B2 gene ATP6V1B2 Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Zimmermann-Laband syndrome 2, MIM# 616455;Deafness, congenital, with onychodystrophy, autosomal dominant, MIM# 124480;Epileptic encephalopathy Hearing impairment;HP:0000365 PMID: 24913193;28396750;34746137;32873933;25915598 False 3 100;0;0 1.210 True ENSG00000147416 ENSG00000147416 HGNC:854 BCAP31 gene BCAP31 Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Deafness, dystonia, and cerebral hypomyelination, MIM# 300475" Hearing impairment;HP:0000365 24011989;31330203;28332767 False 3 100;0;0 1.210 True ENSG00000185825 ENSG00000185825 HGNC:16695 BCS1L gene BCS1L Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Bjornstad syndrome, MIM# 262000;Leigh syndrome, MIM# 256000;BCS1L-related mitochondrial disease Hearing impairment;HP:0000365 26563427;24172246;17314340 False 3 100;0;0 1.210 True ENSG00000074582 ENSG00000074582 HGNC:1020 BRAF gene BRAF Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan Syndrome with Multiple Lentigines, OMIM # 613707 Hearing impairment;HP:0000365 PMID: 20301557 False 3 100;0;0 1.210 False ENSG00000157764 ENSG00000157764 HGNC:1097 BSND gene BSND Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Sensorineural deafness with mild renal dysfunction, MIM# 602522;Bartter syndrome, type 4a, MIM# 602522 Hearing impairment;HP:0000365 19646679 False 3 100;0;0 1.210 True ENSG00000162399 ENSG00000162399 HGNC:16512 CABP2 gene CABP2 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 93, MIM# 614899 Hearing impairment;HP:0000365 22981119;31661684;28183797 False 3 100;0;0 1.210 True ENSG00000167791 ENSG00000167791 HGNC:1385 CD164 gene CD164 Expert list;Expert Review Green Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Deafness, autosomal dominant 66, MIM# 616969" Hearing impairment;HP:0000365 26197441;35254497;26197441 False 3 50;0;50 1.210 True ENSG00000135535 ENSG00000135535 HGNC:1632 CDC14A gene CDC14A Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653 Hearing impairment;HP:0000365 29293958;27259055 False 3 100;0;0 1.210 True ENSG00000079335 ENSG00000079335 HGNC:1718 CDH23 gene CDH23 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 1D (MIM# 601067);Deafness, autosomal recessive 12 (MIM # 601386);Usher syndrome, type 1D/F digenic (MIM #601067) Hearing impairment;HP:0000365 11138009;25468891;21940737 False 3 100;0;0 1.210 True ENSG00000107736 ENSG00000107736 HGNC:13733 CDK5RAP2 gene CDK5RAP2 Expert Review;Expert Review Green Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 3, primary, autosomal recessive, MIM# 604804;MONDO:0011488 Hearing impairment;HP:0000365 15793586;22887808;23995685;23726037;27761245;20460369;32677750;32015000 False 3 100;0;0 1.210 True ENSG00000136861 ENSG00000136861 HGNC:18672 CEACAM16 gene CEACAM16 Expert Review Green;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 4B, MIM# 614614;Deafness, autosomal recessive 113, MIM# 618410 Hearing impairment;HP:0000365 21368133;22544735;29703829;25589040;31249509;30514912 False 3 100;0;0 1.210 True ENSG00000213892 ENSG00000213892 HGNC:31948 CEP250 gene CEP250 Expert list;Expert Review Green Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy and hearing loss 2, MIM# 618358 Hearing impairment;HP:0000365 24780881;29718797;30459346 False 3 100;0;0 1.210 True ENSG00000126001 ENSG00000126001 HGNC:1859 CEP78 gene CEP78 Expert list;Expert Review Green Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy and hearing loss, MIM#617236 Hearing impairment;HP:0000365 28005958;27588451;27588452;27627988 False 3 100;0;0 1.210 True ENSG00000148019 ENSG00000148019 HGNC:25740 CHD7 gene CHD7 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHARGE syndrome, MIM# 214800 Hearing impairment;HP:0000365 False 3 100;0;0 1.210 True ENSG00000171316 ENSG00000171316 HGNC:20626 CHSY1 gene CHSY1 Expert Review;Expert Review Green Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533;CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Hearing impairment;HP:0000365 21129728;21129727;24269551 False 3 100;0;0 1.210 True ENSG00000131873 ENSG00000131873 HGNC:17198 CIB2 gene CIB2 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 48, MIM# 609439 Hearing impairment;HP:0000365 23023331;23023331;26173970;26473954;27344577;26226137;26445815 False 3 100;0;0 1.210 True ENSG00000136425 ENSG00000136425 HGNC:24579 CISD2 gene CISD2 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Wolfram syndrome 2, MIM# 604928 Hearing impairment;HP:0000365 False 3 100;0;0 1.210 True ENSG00000145354 ENSG00000145354 HGNC:24212 CLDN14 gene CLDN14 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 29, MIM# 614035 Hearing impairment;HP:0000365 11163249;20811388;22246673;23235333;27870113;27838790;12913076 False 3 100;0;0 1.210 True ENSG00000159261 ENSG00000159261 HGNC:2035 CLDN9 gene CLDN9 Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 116, MIM#619093 Hearing impairment;HP:0000365 31175426;19696885;34265170 False 3 50;50;0 1.210 True ENSG00000213937 ENSG00000213937 HGNC:2051 CLPP gene CLPP Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 3, MIM# 614129 Hearing impairment;HP:0000365 23541340;27087618;27899912;25254289;23851121 False 3 100;0;0 1.210 True ENSG00000125656 ENSG00000125656 HGNC:2084 CLRN1 gene CLRN1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 3A, MIM# 276902 Hearing impairment;HP:0000365 11524702;24596593;22135276;21675857;19753315;27110679;26943149;22787034 False 3 100;0;0 1.210 True ENSG00000163646 ENSG00000163646 HGNC:12605 COCH gene COCH Expert Review Green;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 9, MIM# 601369;Deafness, autosomal recessive 110, MIM# 618094" Hearing impairment;HP:0000365 16151338;28116169;28099493;9806553;17561763;21046548;26256111;22931125;22610276;18312449;28733840;18697796;29449721;32939038;32562050 False 3 100;0;0 1.210 True ENSG00000100473 ENSG00000100473 HGNC:2180 COL11A1 gene COL11A1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Stickler syndrome, type II, MIM# 604841;Marshall syndrome, MIM# 154780 Hearing impairment;HP:0000365 False 3 100;0;0 1.210 True ENSG00000060718 ENSG00000060718 HGNC:2186 COL11A2 gene COL11A2 Expert Review Green;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 13, MIM# 601868;Deafness, autosomal recessive 53, MIM# 609706;Otospondylomegaepiphyseal dysplasia, autosomal dominant, MIM# 184840;Otospondylomegaepiphyseal dysplasia, autosomal recessive, MIM# 215150 Hearing impairment;HP:0000365 10581026;25633957;16033917 False 3 100;0;0 1.210 True ENSG00000204248 ENSG00000204248 HGNC:2187 COL2A1 gene COL2A1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Stickler syndrome, type I, MIM108300 Hearing impairment;HP:0000365 27408751 False 3 100;0;0 1.210 True ENSG00000139219 ENSG00000139219 HGNC:2200 COL4A5 gene COL4A5 Expert Review Green;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) Alport syndrome 1, X-linked, MIM# 301050 Hearing impairment;HP:0000365 False 3 100;0;0 1.210 True ENSG00000188153 ENSG00000188153 HGNC:2207 COL9A1 gene COL9A1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Stickler syndrome, type IV, MIM#614134 Hearing impairment;HP:0000365 False 3 100;0;0 1.210 True ENSG00000112280 ENSG00000112280 HGNC:2217 COL9A2 gene COL9A2 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Stickler syndrome, type V, MIM# 614284 Hearing impairment;HP:0000365 31090205;21671392;20686772;27666725;15802199;15710493 False 3 100;0;0 1.210 True ENSG00000049089 ENSG00000049089 HGNC:2218 COL9A3 gene COL9A3 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Stickler syndrome, type VI, MIM# 620022 Hearing impairment;HP:0000365 30450842;31090205;24273071 False 3 100;0;0 1.210 True ENSG00000092758 ENSG00000092758 HGNC:2219 CRLS1 gene CRLS1 Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 57, MIM# 620167 Hearing impairment;HP:0000365 35147173 False 3 100;0;0 1.210 True ENSG00000088766 ENSG00000088766 HGNC:16148 CRYM gene CRYM Expert Review Green;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 40, MIM# 616357" Hearing impairment;HP:0000365 12471561;16740909;18448257;24676347;26915689;32742378 False 3 50;50;0 1.210 True ENSG00000103316 ENSG00000103316 HGNC:2418 DAP3 gene DAP3 Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease MONDO:0044970, DAP3-related Hearing impairment;HP:0000365 39701103 False 3 100;0;0 1.210 True ENSG00000132676 ENSG00000132676 HGNC:2673 DCAF17 gene DCAF17 Expert Review;Expert Review Green Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Woodhouse-Sakati syndrome, MIM# 241080 Hearing impairment;HP:0000365 19026396;20507343;35002959;34877714;34732557;34590781 False 3 100;0;0 1.210 True ENSG00000115827 ENSG00000115827 HGNC:25784 DFNA5 gene DFNA5 Expert Review Green;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 5, MIM# 600994 Hearing impairment;HP:0000365 9771715;14676472; 14559215;24933359;17868390;24506266;12853124;14736743;22848872 False 3 100;0;0 1.210 True ENSG00000105928 ENSG00000105928 HGNC:2810 DFNB59 gene DFNB59 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 59, MIM# 610220 Hearing impairment;HP:0000365 16804542;26166082;22617256;28964305;17373699;25631766;28209736 False 3 100;0;0 1.210 True ENSG00000204311 ENSG00000204311 HGNC:29502 DHRSX gene DHRSX Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type 1DD, MIM# 301133 Hearing impairment;HP:0000365 38821050 False 3 100;0;0 1.210 True ENSG00000169084 ENSG00000169084 HGNC:18399 DIAPH1 gene DIAPH1 Expert Review Green;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 1, with or without thrombocytopenia, MIM# 124900 Hearing impairment;HP:0000365 24781755;27707755;27808407;28003573;28815995 False 3 100;0;0 1.210 True ENSG00000131504 ENSG00000131504 HGNC:2876 DMXL2 gene DMXL2 Expert list;Expert Review Green Deafness_IsolatedAndComplex Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal dominant 71, MIM#617605;Epileptic encephalopathy, early infantile, 81, MIM#618663, includes deafness Hearing impairment;HP:0000365 27657680;22875945;31688942 False 3 100;0;0 1.210 True ENSG00000104093 ENSG00000104093 HGNC:2938 DNMT1 gene DNMT1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121;Neuropathy, hereditary sensory, type IE, 614116 Hearing impairment;HP:0000365 22328086;21532572;31984424 False 3 100;0;0 1.210 True ENSG00000130816 ENSG00000130816 HGNC:2976 EDN3 gene EDN3 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Waardenburg syndrome, type 4B, MIM# 613265 Hearing impairment;HP:0000365 8630502;11303518;19764030 False 3 100;0;0 1.210 True ENSG00000124205 ENSG00000124205 HGNC:3178 EDNRB gene EDNRB Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Waardenburg syndrome, type 4A, MIM# 277580 Hearing impairment;HP:0000365 False 3 100;0;0 1.210 True ENSG00000136160 ENSG00000136160 HGNC:3180 EPS8 gene EPS8 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 102, MIM# 615974" Hearing impairment;HP:0000365 24741995 False 3 100;0;0 1.210 True ENSG00000151491 ENSG00000151491 HGNC:3420 EPS8L2 gene EPS8L2 Expert list;Expert Review Green Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Deafness autosomal recessive 106, MIM# 617637" Hearing impairment;HP:0000365 26282398;23918390;28281779 False 3 100;0;0 1.210 True ENSG00000177106 ENSG00000177106 HGNC:21296 ESPN gene ESPN Expert Review Green;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 36, MIM# 609006;Deafness, neurosensory, without vestibular involvement, autosomal dominant, MIM# 609006 Hearing impairment;HP:0000365 15286153;18973245;26445815;28281779;10975527;15930085 False 3 100;0;0 1.210 True ENSG00000187017 ENSG00000187017 HGNC:13281 ESRRB gene ESRRB Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 35, MIM#608565 Hearing impairment;HP:0000365 18179891;31389194;32681043 False 3 100;0;0 1.210 True ENSG00000119715 ENSG00000119715 HGNC:3473 EYA1 gene EYA1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiootic syndrome 1, MIM# 602588 Hearing impairment;HP:0000365 False 3 100;0;0 1.210 True ENSG00000104313 ENSG00000104313 HGNC:3519 EYA4 gene EYA4 Expert Review Green;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 10, MIM# 601316 Hearing impairment;HP:0000365 11159937; 17568404;25681523;25963406;25242383;26331839;18219393;27545760;15735644 False 3 100;0;0 1.210 True ENSG00000112319 ENSG00000112319 HGNC:3522 FDXR gene FDXR Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Auditory neuropathy and optic atrophy, MIM# 617717 Hearing impairment;HP:0000365 28965846 False 3 100;0;0 1.210 True ENSG00000161513 ENSG00000161513 HGNC:3642 FGF3 gene FGF3 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM# 610706 Hearing impairment;HP:0000365 21480479;21306635;18435799;17236138;21306635;18701883;8223243;26995070;29902227;30504125 False 3 100;0;0 1.210 True ENSG00000186895 ENSG00000186895 HGNC:3681 FITM2 gene FITM2 Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Siddiqi syndrome MIM#618635;dystonia;deafness Hearing impairment;HP:0000365 28067622;30214770;30288795 False 3 100;0;0 1.210 True ENSG00000197296 ENSG00000197296 HGNC:16135 FOXI1 gene FOXI1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal autosomal recessive distal renal tubular acidosis MONDO:0018440 Hearing impairment;HP:0000365 9843211;12642503;29242249;17503324;30268946;27997596;22285650;23965030;24860705;32447495;19204907 False 3 100;0;0 1.210 True ENSG00000168269 ENSG00000168269 HGNC:3815 GATA2 gene GATA2 Expert Review;Expert Review Green Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Emberger syndrome, MIM# 614038;Deafness-lymphoedema-leukaemia syndrome MONDO:0013540 Hearing impairment;HP:0000365 21670465;21242295;21892158 False 3 100;0;0 1.210 True ENSG00000179348 ENSG00000179348 HGNC:4171 GATA3 gene GATA3 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255 Hearing impairment;HP:0000365 10935639;11389161;21120445;26316437;25771973;27387476;30396722 False 3 100;0;0 1.210 True ENSG00000107485 ENSG00000107485 HGNC:4172 GGPS1 gene GGPS1 Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, MIM# 619518;Muscular dystrophy;Deafness;Ovarian insufficiency Hearing impairment;HP:0000365 32403198 False 3 100;0;0 1.210 True ENSG00000152904 ENSG00000152904 HGNC:4249 GIPC3 gene GIPC3 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 15, MIM# 601869 Hearing impairment;HP:0000365 21326233;21660509 False 3 100;0;0 1.210 True ENSG00000179855 ENSG00000179855 HGNC:18183 GJB1 gene GJB1 Expert Review Green;Literature;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) Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800;MONDO:0010549 Hearing impairment;HP:0000365 28448691;20193560;21282593;10102421 False 3 50;50;0 1.210 True ENSG00000169562 ENSG00000169562 HGNC:4283 GJB2 gene GJB2 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bart-Pumphrey syndrome, MIM#149200;Deafness, autosomal dominant 3A, MIM#601544;Deafness, autosomal recessive 1A, MIM#220290;Hystrix-like ichthyosis with deafness, MIM#602540;Keratitis-ichthyosis-deafness syndrome, MIM#148210;Keratoderma, palmoplantar, with deafness, MIM#148350;Vohwinkel syndrome, MIM# 124500 Hearing impairment;HP:0000365 9529365;14985372;19941053;11354642 False 3 100;0;0 1.210 True ENSG00000165474 ENSG00000165474 HGNC:4284 GJB6 gene GJB6 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders Other Deafness, autosomal recessive and autosomal dominant Hearing impairment;HP:0000365 False 3 100;0;0 1.210 True ENSG00000121742 ENSG00000121742 HGNC:4288 GPR156 gene GPR156 Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 121, MIM# 620551 Hearing impairment;HP:0000365 PMID: 36928819 False 3 100;0;0 1.210 True ENSG00000175697 ENSG00000175697 HGNC:20844 GPSM2 gene GPSM2 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Chudley-McCullough syndrome, MIM# 604213 Hearing impairment;HP:0000365 20602914;22578326;28387217;27180139;27064331 False 3 100;0;0 1.210 True ENSG00000121957 ENSG00000121957 HGNC:29501 GREB1L gene GREB1L Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal hypodysplasia/aplasia 3, OMIM# 617805;Deafness, autosomal dominant 80, MIM# 619274 Hearing impairment;HP:0000365 PMID: 29100091;29955957;32585897;35012281 False 3 100;0;0 1.210 True ENSG00000141449 ENSG00000141449 HGNC:31042 GRHL2 gene GRHL2 Expert Review Green;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 28, MIM# 608641 Hearing impairment;HP:0000365 False 3 100;0;0 1.210 True ENSG00000083307 ENSG00000083307 HGNC:2799 GRXCR1 gene GRXCR1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 25, MIM# 613285 Hearing impairment;HP:0000365 20137778;25802247;26226137;26445815;26969326;20137774 False 3 100;0;0 1.210 True ENSG00000215203 ENSG00000215203 HGNC:31673 GRXCR2 gene GRXCR2 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 101, MIM# 615837" Hearing impairment;HP:0000365 24619944;33528103 False 3 50;50;0 1.210 True ENSG00000204928 ENSG00000204928 HGNC:33862 HAAO gene HAAO Expert list;Expert Review Green Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Vertebral, cardiac, renal, and limb defects syndrome 1, MIM# 617660" Hearing impairment;HP:0000365 28792876;33942433 False 3 100;0;0 1.210 True ENSG00000162882 ENSG00000162882 HGNC:4796 HARS2 gene HARS2 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Perrault syndrome 2, MIM# 614926" Hearing impairment;HP:0000365 21464306;27650058;31827252;31486067 False 3 100;0;0 1.210 True ENSG00000112855 ENSG00000112855 HGNC:4817 HGF gene HGF Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders Unknown Deafness, autosomal recessive 39, MIM# 608265 Hearing impairment;HP:0000365 19576567;27488639 False 3 100;0;0 1.210 True ENSG00000019991 ENSG00000019991 HGNC:4893 HOMER2 gene HOMER2 Expert Review Green;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 68, MIM# 616707 Hearing impairment;HP:0000365 25816005;30047143;25816005 False 3 100;0;0 1.210 True ENSG00000103942 ENSG00000103942 HGNC:17513 HOXA1 gene HOXA1 Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Athabaskan brainstem dysgenesis syndrome MIM#601536;Bosley-Salih-Alorainy syndrome MIM#601536 Hearing impairment;HP:0000365 16155570;18412118;32864817 False 3 100;0;0 1.210 True ENSG00000105991 ENSG00000105991 HGNC:5099 HOXA2 gene HOXA2 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Microtia with or without hearing impairment, MIM# 612290 Hearing impairment;HP:0000365 18394579;23775976;27503514;32649979;31567444 False 3 100;0;0 1.210 True ENSG00000105996 ENSG00000105996 HGNC:5103 HSD17B4 gene HSD17B4 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 1, MIM# 233400 Hearing impairment;HP:0000365 24553428;23181892;20673864 False 3 100;0;0 1.210 True ENSG00000133835 ENSG00000133835 HGNC:5213 ILDR1 gene ILDR1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 42, MIM# 609646 Hearing impairment;HP:0000365 21255762;23226338;22903915;27344577;21255762;23239027;25822906;25819842;24990150 False 3 100;0;0 1.210 True ENSG00000145103 ENSG00000145103 HGNC:28741 KARS gene KARS Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196;Deafness, autosomal recessive 89, MIM# 613916" Hearing impairment;HP:0000365 23768514;23768514;14975237 False 3 100;0;0 1.210 True ENSG00000065427 ENSG00000065427 HGNC:6215 KCNE1 gene KCNE1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Jervell and Lange-Nielsen syndrome 2, MIM# 612347 Hearing impairment;HP:0000365 False 3 100;0;0 1.210 True ENSG00000180509 ENSG00000180509 HGNC:6240 KCNJ10 gene KCNJ10 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "SESAME syndrome, MIM# 612780" Hearing impairment;HP:0000365 21849804;19289823 False 3 50;0;50 1.210 True ENSG00000177807 ENSG00000177807 HGNC:6256 KCNJ16 gene KCNJ16 Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Inherited renal tubular disease, MONDO:0015962, KCNJ16-related;Renal tubulopathy;deafness Hearing impairment;HP:0000365 33811157;33840812 False 3 100;0;0 1.210 True ENSG00000153822 ENSG00000153822 HGNC:6262 KCNQ1 gene KCNQ1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Jervell and Lange-Nielsen syndrome, MIM# 220400" Hearing impairment;HP:0000365 False 3 100;0;0 1.210 True ENSG00000053918 ENSG00000053918 HGNC:6294 KCNQ4 gene KCNQ4 Expert Review Green;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 2A, MIM# 600101 Hearing impairment;HP:0000365 10369879 False 3 100;0;0 1.210 True ENSG00000117013 ENSG00000117013 HGNC:6298 KDM3B gene KDM3B Expert Review;Expert Review Green Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diets-Jongmans syndrome, MIM# 618846;Intellectual disability;short stature;deafness Hearing impairment;HP:0000365 30929739 False 3 100;0;0 1.210 True ENSG00000120733 ENSG00000120733 HGNC:1337 KIAA0391 gene KIAA0391 Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 54, MIM# 619737 Hearing impairment;HP:0000365 PMID: 34715011 False 3 100;0;0 1.210 True ENSG00000100890 ENSG00000100890 HGNC:19958 KIAA1024L gene KIAA1024L Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 120, OMIM:620238 Hearing impairment;HP:0000365 35727972 False 3 100;0;0 1.210 True ENSG00000186367 ENSG00000186367 HGNC:33914 KIT gene KIT Expert list;Expert Review Green Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Piebaldism, MIM# 172800" Hearing impairment;HP:0000365 False 3 100;0;0 1.210 True ENSG00000157404 ENSG00000157404 HGNC:6342 KITLG gene KITLG Expert list;Expert Review Green Deafness_IsolatedAndComplex Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Waardenburg syndrome, MONDO:0018094, KITLG-related;Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697" Hearing impairment;HP:0000365 26522471 False 3 50;50;0 1.210 True ENSG00000049130 ENSG00000049130 HGNC:6343 KMT2D gene KMT2D Expert Review;Expert Review Green Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH), MIM#620186 Hearing impairment;HP:0000365 31949313;32083401 False 3 100;0;0 1.210 True ENSG00000167548 ENSG00000167548 HGNC:7133 LARS2 gene LARS2 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 4, MIM#615300 Hearing impairment;HP:0000365 False 3 100;0;0 1.210 True ENSG00000011376 ENSG00000011376 HGNC:17095 LETM1 gene LETM1 Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089 Hearing impairment;HP:0000365 36055214 False 3 100;0;0 1.210 True ENSG00000168924 ENSG00000168924 HGNC:6556 LHFPL5 gene LHFPL5 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 67, MIM# 610265 Hearing impairment;HP:0000365 16459341;16752389;21816241;19888295;26437881;26029705;15905332;19102128;25550511 False 3 100;0;0 1.210 True ENSG00000197753 ENSG00000197753 HGNC:21253 LHX3 gene LHX3 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 3, MIM# 221750 Hearing impairment;HP:0000365 False 3 100;0;0 1.210 True ENSG00000107187 ENSG00000107187 HGNC:6595 LMNA gene LMNA Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Laminopathy (MONDO#0021106), LMNA-related Hearing impairment;HP:0000365 PMID: 32913962 False 3 100;0;0 1.210 True ENSG00000160789 ENSG00000160789 HGNC:6636 LMX1A gene LMX1A Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Deafness, autosomal dominant 7 MIM#601412;Deafness, autosomal recessive Hearing impairment;HP:0000365 29754270;29971487;32840933 False 3 50;50;0 1.210 True ENSG00000162761 ENSG00000162761 HGNC:6653 LMX1B gene LMX1B Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nail-patella syndrome (MIM#161200), MONDO:0008061 Hearing impairment;HP:0000365 PMID: 27450397, 32457516, 15928687 False 3 100;0;0 1.210 True ENSG00000136944 ENSG00000136944 HGNC:6654 LOXHD1 gene LOXHD1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 77, MIM# 613079 Hearing impairment;HP:0000365 19732867;25792669 False 3 100;0;0 1.210 True ENSG00000167210 ENSG00000167210 HGNC:26521 LRP2 gene LRP2 Expert list;Expert Review Green Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Donnai-Barrow syndrome, MIM#222448 Hearing impairment;HP:0000365 PMID: 17632512 False 3 100;0;0 1.210 True ENSG00000081479 ENSG00000081479 HGNC:6694 LRTOMT gene LRTOMT Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 63, MIM# 611451 Hearing impairment;HP:0000365 18953341;18794526;21739586;18794526 False 3 100;0;0 1.210 True ENSG00000184154 ENSG00000184154 HGNC:25033 MAP1B gene MAP1B Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Deafness, autosomal dominant 83, MIM# 619808 Hearing impairment;HP:0000365 PMID: 33268592 False 3 100;0;0 1.210 True ENSG00000131711 ENSG00000131711 HGNC:6836 MAP2K1 gene MAP2K1 Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan Syndrome with Multiple Lentigines, OMIM # 615279 Hearing impairment;HP:0000365 PMID: 20301557 False 3 100;0;0 1.210 False ENSG00000169032 ENSG00000169032 HGNC:6840 MAP3K20 gene MAP3K20 Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Syndromic disease, MONDO:0002254, MAP3K20-related Hearing impairment;HP:0000365 38451290 False 3 100;0;0 1.210 True ENSG00000091436 ENSG00000091436 HGNC:17797 MARVELD2 gene MARVELD2 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 49, MIM# 610153 Hearing impairment;HP:0000365 17186462;18084694;22903915;27344577;26677943;23979167 False 3 100;0;0 1.210 True ENSG00000152939 ENSG00000152939 HGNC:26401 MASP1 gene MASP1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "3MC syndrome 1, MIM# 257920" Hearing impairment;HP:0000365 False 3 100;0;0 1.210 True ENSG00000127241 ENSG00000127241 HGNC:6901 MITF gene MITF Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Waardenburg syndrome, type 2A, MIM# 193510;Deafness Hearing impairment;HP:0000365 7874167;23512835;27759048;28356565;9499424;27349893;32728090 False 3 100;0;0 1.210 True ENSG00000187098 ENSG00000187098 HGNC:7105 MN1 gene MN1 Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Conductive and sensorineural hearing loss;CEBALID syndrome, MIM# 618774" Hearing impairment;HP:0000365 31834374 False 3 100;0;0 1.210 True Other ENSG00000169184 ENSG00000169184 HGNC:7180 MORC2 gene MORC2 Expert list;Expert Review Green Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090;Developmental delay;Intellectual disability;Growth retardation;Microcephaly;Craniofacial dysmorphism;Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688 Hearing impairment;HP:0000365 32693025 False 3 100;0;0 1.210 True ENSG00000133422 ENSG00000133422 HGNC:23573 MPZL2 gene MPZL2 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 111, MIM#618145 Hearing impairment;HP:0000365 29982980;29961571 False 3 100;0;0 1.210 True ENSG00000149573 ENSG00000149573 HGNC:3496 MRPL49 gene MRPL49 Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO:0044970, MRPL49-related Hearing impairment;HP:0000365 39417135 False 3 100;0;0 1.210 True ENSG00000149792 ENSG00000149792 HGNC:1176 MSRB3 gene MSRB3 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders Unknown Deafness, autosomal recessive 74, MIM# 613718 Hearing impairment;HP:0000365 19650862;24191262;21185009 False 3 100;0;0 1.210 True ENSG00000174099 ENSG00000174099 HGNC:27375 MYH14 gene MYH14 Expert Review Green;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 4A, MIM# 600652 Hearing impairment;HP:0000365 False 3 100;0;0 1.210 True ENSG00000105357 ENSG00000105357 HGNC:23212 MYH9 gene MYH9 Expert Review Green;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 17, MIM# 603622;Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100;MYH9-related disorders Hearing impairment;HP:0000365 9390828;24890873;17146397;25505834;16630581;16162639;23976996;21908426 False 3 100;0;0 1.210 True ENSG00000100345 ENSG00000100345 HGNC:7579 MYO15A gene MYO15A Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 3, MIM# 600316 Hearing impairment;HP:0000365 27375115;26226137;23208854;19309289;9603735;10915760 False 3 100;0;0 1.210 True ENSG00000091536 ENSG00000091536 HGNC:7594 MYO3A gene MYO3A Expert Review Green;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 30, MIM# 607101;Deafness, autosomal dominant 90, MIM# 620722 Hearing impairment;HP:0000365 21165622;26754646;23990876;33078831;26841241;29880844 False 3 100;0;0 1.210 True ENSG00000095777 ENSG00000095777 HGNC:7601 MYO6 gene MYO6 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Deafness, autosomal dominant 22, MIM# 606346;Deafness, autosomal recessive 37, MIM# 607821 Hearing impairment;HP:0000365 24105371;11468689;25999546;25227905;18348273;27171474 False 3 100;0;0 1.210 True ENSG00000196586 ENSG00000196586 HGNC:7605 MYO7A gene MYO7A Expert Review Green;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 11, MIM# 601317;Deafness, autosomal recessive 2, 600060;Usher syndrome, type 1B, MIM# 276900 Hearing impairment;HP:0000365 9354784;15300860;15121790;15221449;16449806;21150918;23451214;23383098;28802369;29400105;23559863;18181211;25211151 False 3 100;0;0 1.210 True ENSG00000137474 ENSG00000137474 HGNC:7606 NARS2 gene NARS2 Expert list;Expert Review Green Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 94, MIM# 618434;Combined oxidative phosphorylation deficiency 24, MIM#616239" Hearing impairment;HP:0000365 25807530;28077841;30327238;25385316 False 3 100;0;0 1.210 True ENSG00000137513 ENSG00000137513 HGNC:26274 NDRG1 gene NDRG1 Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4D MIM#601455;Syndromic auditory neuropathy spectrum disorder;Hereditary motor and sensory neuropathy Lom Hearing impairment;HP:0000365 29724652;10831399;12872253;24136616 False 3 100;0;0 1.210 True ENSG00000104419 ENSG00000104419 HGNC:7679 OGDHL gene OGDHL Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Yoon-Bellen neurodevelopmental syndrome, MIM# 619701;Neurodevelopmental disorder featuring epilepsy, hearing loss and visual impairment Hearing impairment;HP:0000365 34800363 False 3 100;0;0 1.210 True ENSG00000197444 ENSG00000197444 HGNC:25590 OPA1 gene OPA1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Optic atrophy plus syndrome, MIM# 125250 Hearing impairment;HP:0000365 False 3 100;0;0 1.210 True ENSG00000198836 ENSG00000198836 HGNC:8140 OSBPL2 gene OSBPL2 Expert Review Green;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 67, MIM# 616340 Hearing impairment;HP:0000365 25077649;25759012;31451425;30894143 False 3 100;0;0 1.210 True ENSG00000130703 ENSG00000130703 HGNC:15761 OTOA gene OTOA Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 22, MIM# 607039 Hearing impairment;HP:0000365 11972037;19888295;23173898;16460646;26029705;26969326;23129639 False 3 100;0;0 1.210 True ENSG00000155719 ENSG00000155719 HGNC:16378 OTOF gene OTOF Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Auditory neuropathy, autosomal recessive, 1 (MIM # 601071);Deafness, autosomal recessive 9 (MIM # 601071 Hearing impairment;HP:0000365 16371502;22906306 False 3 100;0;0 1.210 True ENSG00000115155 ENSG00000115155 HGNC:8515 OTOG gene OTOG Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 18B, MIM#614945 Hearing impairment;HP:0000365 29800624;23122587 False 3 100;0;0 1.210 True ENSG00000188162 ENSG00000188162 HGNC:8516 OTOGL gene OTOGL Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 84B, MIM# 614944 Hearing impairment;HP:0000365 23122586;23850727;25829320; 25719458;28426234 False 3 100;0;0 1.210 True ENSG00000165899 ENSG00000165899 HGNC:26901 P2RX2 gene P2RX2 Expert Review Green;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 41, MIM# 608224" Hearing impairment;HP:0000365 23345450;24211385;33791800 False 3 100;0;0 1.210 True Other ENSG00000187848 ENSG00000187848 HGNC:15459 PAX1 gene PAX1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Otofaciocervical syndrome 2, MIM# 615560" Hearing impairment;HP:0000365 23851939;29681087 False 3 100;0;0 1.210 True ENSG00000125813 ENSG00000125813 HGNC:8615 PAX3 gene PAX3 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Waardenburg syndrome, type 1, MIM# 193500 Hearing impairment;HP:0000365 27759048;7897628;28690861;30314436;25932447;7726174;12949970 False 3 100;0;0 1.210 True ENSG00000135903 ENSG00000135903 HGNC:8617 PBX1 gene PBX1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MIM# 617641 Hearing impairment;HP:0000365 29036646 False 3 100;0;0 1.210 True ENSG00000185630 ENSG00000185630 HGNC:8632 PCDH15 gene PCDH15 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 1F, MIM# 602083;Deafness, autosomal recessive 23, MIM# 609533 Hearing impairment;HP:0000365 11398101;11487575;11138007;12782354;16260500;14570705;25930172;28281779 False 3 100;0;0 1.210 True ENSG00000150275 ENSG00000150275 HGNC:14674 PDZD7 gene PDZD7 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 57, MIM# 618003 Hearing impairment;HP:0000365 19028668;26416264;26849169;27068579;26445815;28173822;24334608 False 3 100;0;0 1.210 True ENSG00000186862 ENSG00000186862 HGNC:26257 PEX1 gene PEX1 Expert list;Expert Review Green Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Heimler syndrome 1, MIM# 234580 Hearing impairment;HP:0000365 32596134;31831025;27872819;27633571;27302843 False 3 100;0;0 1.210 True ENSG00000127980 ENSG00000127980 HGNC:8850 PLOD3 gene PLOD3 Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Lysyl hydroxylase 3 deficiency, MIM# 612394;Sensorineural deafness Hearing impairment;HP:0000365 18834968;31129566 False 3 100;0;0 1.210 True ENSG00000106397 ENSG00000106397 HGNC:9083 PLS1 gene PLS1 Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 76, MIM# 618787 Hearing impairment;HP:0000365 31397523;31432506;30872814 False 3 100;0;0 1.210 True ENSG00000120756 ENSG00000120756 HGNC:9090 PLXNB2 gene PLXNB2 Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Syndromic disease MONDO:0002254, PLXNB2 -related Hearing impairment;HP:0000365 PMID: 38458752 False 3 100;0;0 1.210 True ENSG00000196576 ENSG00000196576 HGNC:9104 PNPT1 gene PNPT1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 13, MIM#614932;Deafness, autosomal recessive 70, MIM#614934 Hearing impairment;HP:0000365 23084290;31752325;30244537 False 3 50;50;0 1.210 True ENSG00000138035 ENSG00000138035 HGNC:23166 POLD1 gene POLD1 Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM#615381;Non-syndromic deafness Hearing impairment;HP:0000365 False 3 100;0;0 1.210 True ENSG00000062822 ENSG00000062822 HGNC:9175 POU3F4 gene POU3F4 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Deafness, X-linked 2, MIM# 304400 Hearing impairment;HP:0000365 31786483;30176854 False 3 100;0;0 1.210 True ENSG00000196767 ENSG00000196767 HGNC:9217 POU4F3 gene POU4F3 Expert Review Green;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 15, MIM# 602459 Hearing impairment;HP:0000365 18228599;9506947;20434433;28545070;15254021;8637595 False 3 100;0;0 1.210 True ENSG00000091010 ENSG00000091010 HGNC:9220 PRPS1 gene PRPS1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Deafness, X-linked 1, MIM# 304500;Charcot-Marie-Tooth disease, X-linked recessive, 5, MIM# 311070;Arts syndrome, MIM# 301835 Hearing impairment;HP:0000365 24961627;20021999;27886419;25785835;25182139;17701900;25491489;27256512 False 3 100;0;0 1.210 True ENSG00000147224 ENSG00000147224 HGNC:9462 PTPN11 gene PTPN11 Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan Syndrome with Multiple Lentigines, OMIM # 151100 Hearing impairment;HP:0000365 PMID: 20301557, 32737134 False 3 100;0;0 1.210 False ENSG00000179295 ENSG00000179295 HGNC:9644 PTPRQ gene PTPRQ Expert Review Green;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 84A, MIM# 613391;Deafness, autosomal dominant 73, MIM# 617663" Hearing impairment;HP:0000365 33229591;20346435;20472657;25919374;14534255;22357859;29849575;29309402;31655630 False 3 100;0;0 1.210 True ENSG00000139304 ENSG00000139304 HGNC:9679 RABGAP1 gene RABGAP1 Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, RABGAP1-related,MONDO:0700092 Hearing impairment;HP:0000365 36083289 False 3 100;0;0 1.210 True ENSG00000011454 ENSG00000011454 HGNC:17155 RAF1 gene RAF1 Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan Syndrome with Multiple Lentigines, OMIM # 611554 Hearing impairment;HP:0000365 PMID: 20301557 False 3 100;0;0 1.210 False ENSG00000132155 ENSG00000132155 HGNC:9829 RDX gene RDX Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 24, MIM# 611022 Hearing impairment;HP:0000365 17226784;19215054;22567349;26226137;15314067 False 3 100;0;0 1.210 True ENSG00000137710 ENSG00000137710 HGNC:9944 RFC4 gene RFC4 Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal RFC4-related multisystem disorder Hearing impairment;HP:0000365 PMID: 39106866 False 3 100;0;0 1.210 False ENSG00000163918 ENSG00000163918 HGNC:9972 RFT1 gene RFT1 Expert Review;Expert Review Green Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type In, MIM# 612015;RFT1-CDG, MONDO:0012783 Hearing impairment;HP:0000365 18313027;19701946;19856127;23111317;30071302;29923091;27927990;26892341 False 3 100;0;0 1.210 True ENSG00000163933 ENSG00000163933 HGNC:30220 RNF220 gene RNF220 Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688;Leukodystrophy;CNS hypomyelination;Ataxia;Intellectual disability;Sensorineural hearing impairment;Elevated hepatic transaminases;Hepatic fibrosis;Dilated cardiomyopathy;Spastic paraplegia;Dysarthria;Abnormality of the corpus callosum Hearing impairment;HP:0000365 33964137;10881263 False 3 100;0;0 1.210 True ENSG00000187147 ENSG00000187147 HGNC:25552 S1PR2 gene S1PR2 Expert list;Expert Review Green Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 68, MIM# 610419" Hearing impairment;HP:0000365 26805784;29776397;27383011 False 3 100;0;0 1.210 True ENSG00000267534 ENSG00000267534 HGNC:3169 SALL1 gene SALL1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Townes-Brocks syndrome 1, MIM#107480 Hearing impairment;HP:0000365 False 3 100;0;0 1.210 True ENSG00000103449 ENSG00000103449 HGNC:10524 SALL4 gene SALL4 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Duane-radial ray syndrome, MIM# 607323 Hearing impairment;HP:0000365 False 3 100;0;0 1.210 True ENSG00000101115 ENSG00000101115 HGNC:15924 SERAC1 gene SERAC1 Expert list;Expert Review Green Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739" Hearing impairment;HP:0000365 False 3 100;0;0 1.210 True ENSG00000122335 ENSG00000122335 HGNC:21061 SERPINB6 gene SERPINB6 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 91, MIM# 613453 Hearing impairment;HP:0000365 20451170;25719458;23669344 False 3 100;0;0 1.210 True ENSG00000124570 ENSG00000124570 HGNC:8950 SGPL1 gene SGPL1 Expert list;Expert Review Green Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal RENI syndrome (MIM#617575) Hearing impairment;HP:0000365 28181337;28165339;28165343 False 3 100;0;0 1.210 True ENSG00000166224 ENSG00000166224 HGNC:10817 SIX1 gene SIX1 Expert Review Green;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 23, MIM# 605192;Branchiootic syndrome 3, MIM# 608389 Hearing impairment;HP:0000365 15141091;18330911;21254961;17637804;29500469;21700001;24164807 False 3 100;0;0 1.210 True ENSG00000126778 ENSG00000126778 HGNC:10887 SLC12A2 gene SLC12A2 Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Kilquist syndrome, MIM#619080;deafness, intellectual disability, dysmorphic features, absent salivation;Congenital, severe to profound hearing loss;minor motor developmental delay;Deafness, autosomal dominant 78, MIM# 619081" Hearing impairment;HP:0000365 30740830;32294086 False 3 50;50;0 1.210 True ENSG00000064651 ENSG00000064651 HGNC:10911 SLC17A8 gene SLC17A8 Expert Review Green;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 25, MIM#605583 Hearing impairment;HP:0000365 18674745;26797701;28647561 False 3 100;0;0 1.210 True ENSG00000179520 ENSG00000179520 HGNC:20151 SLC19A2 gene SLC19A2 Expert Review;Expert Review Green Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270 Hearing impairment;HP:0000365 10391221;10978358 False 3 100;0;0 1.210 True ENSG00000117479 ENSG00000117479 HGNC:10938 SLC26A4 gene SLC26A4 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, MIM#600791;Pendred syndrome, MIM#274600 Hearing impairment;HP:0000365 9618167;19204907 False 3 100;0;0 1.210 True ENSG00000091137 ENSG00000091137 HGNC:8818 SLC33A1 gene SLC33A1 Expert Review;Expert Review Green Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482 Hearing impairment;HP:0000365 31194315 False 3 100;0;0 1.210 True ENSG00000169359 ENSG00000169359 HGNC:95 SLC4A11 gene SLC4A11 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Corneal endothelial dystrophy and perceptive deafness, MIM# 217400 Hearing impairment;HP:0000365 17220209 False 3 100;0;0 1.210 True ENSG00000088836 ENSG00000088836 HGNC:16438 SLC52A2 gene SLC52A2 Expert list;Expert Review Green Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Brown-Vialetto-Van Laere syndrome 2, MIM# 614707" Hearing impairment;HP:0000365 False 3 100;0;0 1.210 True ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A3 gene SLC52A3 Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 1 MIM#211530 Hearing impairment;HP:0000365 32128519;20206331;20920669;29961494 False 3 100;0;0 1.210 True ENSG00000101276 ENSG00000101276 HGNC:16187 SLITRK6 gene SLITRK6 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal deafness and myopia, MIM#221200 Hearing impairment;HP:0000365 23543054;29551497 False 3 100;0;0 1.210 True ENSG00000184564 ENSG00000184564 HGNC:23503 SMPX gene SMPX Expert Review Green;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 4, MIM# 300066 Hearing impairment;HP:0000365 21549342;21549336;21893181;22911656;28542515 False 3 100;0;0 1.210 True ENSG00000091482 ENSG00000091482 HGNC:11122 SOX10 gene SOX10 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted PCWH syndrome (MIM#609136);Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584);Waardenburg syndrome, type 4C (MIM#613266) Hearing impairment;HP:0000365 23643381;24845202 False 3 100;0;0 1.210 True ENSG00000100146 ENSG00000100146 HGNC:11190 SPATA5 gene SPATA5 Expert list;Expert Review Green Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Epilepsy, hearing loss, and mental retardation syndrome, MIM# 616577" Hearing impairment;HP:0000365 26299366 False 3 100;0;0 1.210 True ENSG00000145375 ENSG00000145375 HGNC:18119 SPATA5L1 gene SPATA5L1 Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616;Deafness, autosomal recessive 119, MIM# 619615 Hearing impairment;HP:0000365 34626583 False 3 100;0;0 1.210 True ENSG00000171763 ENSG00000171763 HGNC:28762 SPTBN4 gene SPTBN4 Expert list;Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, MIM# 617519 Hearing impairment;HP:0000365 29861105;28540413 False 3 100;0;0 1.210 True ENSG00000160460 ENSG00000160460 HGNC:14896 STRC gene STRC Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 16, MIM# 603720 Hearing impairment;HP:0000365 11687802;26011646;26746617;20301780 False 3 100;0;0 1.210 True ENSG00000242866 ENSG00000242866 HGNC:16035 STXBP3 gene STXBP3 Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Very Early Onset Inflammatory Bowel Disease;Bilateral Sensorineural Hearing Loss;Immune Dysregulation Hearing impairment;HP:0000365 33891011 False 3 100;0;0 1.210 True ENSG00000116266 ENSG00000116266 HGNC:11446 SUCLA2 gene SUCLA2 Expert Review;Expert Review Green Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791 Hearing impairment;HP:0000365 15877282;17287286;17301081;23759946;33231368;33230181;28243576;27913098;27651038 False 3 100;0;0 1.210 True ENSG00000136143 ENSG00000136143 HGNC:11448 SYNE4 gene SYNE4 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 76, MIM# 615540 Hearing impairment;HP:0000365 23348741;28958982 False 3 100;0;0 1.210 True ENSG00000181392 ENSG00000181392 HGNC:26703 TBC1D24 gene TBC1D24 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal DOORS syndrome, MIM#220500;Deafness, autosomal dominant 65, MIM#616044;Deafness , autosomal recessive 86, MIM#614617 Hearing impairment;HP:0000365 24729539;24729547;24387994;24291220 False 3 100;0;0 1.210 True ENSG00000162065 ENSG00000162065 HGNC:29203 TCOF1 gene TCOF1 Expert Review Green;Other Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Treacher-Collins syndrome (MONDO:0002457) Hearing impairment;HP:0000365 https://search.clinicalgenome.org/CCID:006342 False 3 100;0;0 1.210 True ENSG00000070814 ENSG00000070814 HGNC:11654 TECTA gene TECTA Expert Review Green;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 21 603629;Deafness, autosomal dominant 8/12 601543 Hearing impairment;HP:0000365 22718023;17136632;31554319;21520338 False 3 100;0;0 1.210 True ENSG00000109927 ENSG00000109927 HGNC:11720 THUMPD1 gene THUMPD1 Expert Review Green;Other Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with speech delay and variable ocular anomalies, MIM# 619989 Hearing impairment;HP:0000365 False 3 100;0;0 1.210 True ENSG00000066654 ENSG00000066654 HGNC:23807 TIMM8A gene TIMM8A Expert Review Green;Literature;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mohr-Tranebjaerg syndrome, MIM# 304700 Hearing impairment;HP:0000365 11803487;11405816;32820032 False 3 100;0;0 1.210 True ENSG00000126953 ENSG00000126953 HGNC:11817 TMC1 gene TMC1 Expert Review Green;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 36, MIM# 606705;Deafness, autosomal recessive 7, MIM# 600974 Hearing impairment;HP:0000365 11850618;17250663;18616530;24827932;11850623;22105175 False 3 100;0;0 1.210 True ENSG00000165091 ENSG00000165091 HGNC:16513 TMIE gene TMIE Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 6, MIM# 600971 Hearing impairment;HP:0000365 12145746;19438934;24416283;25467981;25475183;19934034;12140191 False 3 100;0;0 1.210 True ENSG00000181585 ENSG00000181585 HGNC:30800 TMPRSS3 gene TMPRSS3 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 8/10, MIM#601072 Hearing impairment;HP:0000365 21786053;17551081 False 3 100;0;0 1.210 True ENSG00000160183 ENSG00000160183 HGNC:11877 TPRN gene TPRN Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 79, MIM# 613307 Hearing impairment;HP:0000365 19603065;20170898;20170899;23340767;25129962;20170899;20170899;27693694;24285636 False 3 100;0;0 1.210 True ENSG00000176058 ENSG00000176058 HGNC:26894 TRAF7 gene TRAF7 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiac, facial, and digital anomalies with developmental delay, MIM#618164 Hearing impairment;HP:0000365 29961569;32376980 False 3 50;0;50 1.210 True ENSG00000131653 ENSG00000131653 HGNC:20456 TRIOBP gene TRIOBP Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 28, MIM# 609823 Hearing impairment;HP:0000365 16385458;16385457;23226338;27014650;24853665;27344577;20510926 False 3 100;0;0 1.210 True ENSG00000100106 ENSG00000100106 HGNC:17009 TRPV4 gene TRPV4 Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Auditory neuropathy spectrum disorder;Peripheral neuropathy;Hearing loss Hearing impairment;HP:0000365 31393079;24789864;22675077;31468327;20460441;15925108 False 3 0;100;0 1.210 True ENSG00000111199 ENSG00000111199 HGNC:18083 TUBB4B gene TUBB4B Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Leber congenital amaurosis with early-onset deafness, MIM# 617879" Hearing impairment;HP:0000365 29198720 False 3 100;0;0 1.210 True ENSG00000188229 ENSG00000188229 HGNC:20771 TXNL4A gene TXNL4A Expert Review;Expert Review Green Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Burn-McKeown syndrome, MIM# 608572;Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064 Hearing impairment;HP:0000365 25434003 False 3 100;0;0 1.210 True ENSG00000141759 ENSG00000141759 HGNC:30551 USH1C gene USH1C Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Usher syndrome, type 1C, MIM# 276904;Deafness, autosomal recessive 18A, MIM# 602092;Deafness, autosomal dominant Hearing impairment;HP:0000365 10973247;10973248;11239869;21203349;12107438;31858762 False 3 100;0;0 1.210 True ENSG00000006611 ENSG00000006611 HGNC:12597 USH1G gene USH1G Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 1G, MIM# 606943 Hearing impairment;HP:0000365 False 3 100;0;0 1.210 True ENSG00000182040 ENSG00000182040 HGNC:16356 USH2A gene USH2A Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 2A, MIM# 276901 Hearing impairment;HP:0000365 False 3 100;0;0 1.210 True ENSG00000042781 ENSG00000042781 HGNC:12601 USP48 gene USP48 Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 85, MIM# 620227 Hearing impairment;HP:0000365 34059922 False 3 100;0;0 1.210 True ENSG00000090686 ENSG00000090686 HGNC:18533 VPS33B gene VPS33B Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Autosomal recessive keratoderma-ichthyosis-deafness Hearing impairment;HP:0000365 30561130;28017832 False 3 100;0;0 1.210 True ENSG00000184056 ENSG00000184056 HGNC:12712 WFS1 gene WFS1 Expert Review Green;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 6/14/38, MIM# 600965;Wolfram syndrome 1 222300;Wolfram-like syndrome, autosomal dominant, MIM# 614296 Hearing impairment;HP:0000365 11709537;12073007;16648378;18544103;20069065;21538838;25250959;27395765;28802351;29529044;12754709;16151413;21446023;21602428 False 3 100;0;0 1.210 True ENSG00000109501 ENSG00000109501 HGNC:12762 WHRN gene WHRN Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 2D, MIM# 611383;Deafness, autosomal recessive 31, MIM# 607084 Hearing impairment;HP:0000365 17171570;21738389;22147658;26338283;12833159;20502675;28254438;27117407;12833159;29270100;15841483 False 3 100;0;0 1.210 True ENSG00000095397 ENSG00000095397 HGNC:16361 YARS gene YARS Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418 Hearing impairment;HP:0000365 30304524;29232904;27633801 False 3 100;0;0 1.210 True ENSG00000134684 ENSG00000134684 HGNC:12840 ZSCAN10 gene ZSCAN10 Expert Review Green;Literature Deafness_IsolatedAndComplex Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Otofacial neurodevelopmental syndrome, MIM# 620910 Hearing impairment;HP:0000365 PMID: 38386308 False 3 100;0;0 1.210 True ENSG00000130182 ENSG00000130182 HGNC:12997 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