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 ACTG1 gene ACTG1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 20/26, MIM# 604717 Hearing impairment;HP:0000365 29620237;13680526;14684684;16773128;19477959;19497859 False 3 100;0;0 1.85 True ENSG00000184009 ENSG00000184009 HGNC:144 ADGRV1 gene ADGRV1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000164199 ENSG00000164199 HGNC:17416 AIFM1 gene AIFM1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000156709 ENSG00000156709 HGNC:8768 ALMS1 gene ALMS1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Alstrom syndrome, MIM# 203800 Hearing impairment;HP:0000365 11941369;17594715 False 3 50;0;50 1.85 True ENSG00000116127 ENSG00000116127 HGNC:428 ATP11A gene ATP11A Expert Review Green;Literature Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 84, MIM# 619810;Auditory neuropathy, autosomal dominant 2, MIM# 620384 Hearing impairment;HP:0000365 35278131;36300302 False 3 33;67;0 1.85 True ENSG00000068650 ENSG00000068650 HGNC:13552 ATP2B2 gene ATP2B2 Expert Review Green;Literature Deafness_Isolated 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 1.85 True ENSG00000157087 ENSG00000157087 HGNC:815 BCS1L gene BCS1L Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Bjornstad syndrome, MIM# 262000;SNHL and pili torti Hearing impairment;HP:0000365 26563427;24172246;17314340 False 3 100;0;0 1.85 True ENSG00000074582 ENSG00000074582 HGNC:1020 CABP2 gene CABP2 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 93, MIM# 614899 Hearing impairment;HP:0000365 22981119;28183797;31661684 False 3 100;0;0 1.85 True ENSG00000167791 ENSG00000167791 HGNC:1385 CDC14A gene CDC14A Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000079335 ENSG00000079335 HGNC:1718 CDH23 gene CDH23 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 12 (MIM # 601386);Usher syndrome, type 1D/F digenic (MIM #601067);Usher syndrome, type 1D (MIM# 601067) Hearing impairment;HP:0000365 25468891;11138009;21940737 False 3 100;0;0 1.85 True ENSG00000107736 ENSG00000107736 HGNC:13733 CEP78 gene CEP78 Expert list;Expert Review Green Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy and hearing loss, MIM#617236 Hearing impairment;HP:0000365 27588452;28005958;27588451;27627988 False 3 100;0;0 1.85 True ENSG00000148019 ENSG00000148019 HGNC:25740 CHD7 gene CHD7 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "CHARGE syndrome, MIM# 214800" Hearing impairment;HP:0000365 False 3 100;0;0 1.85 True ENSG00000171316 ENSG00000171316 HGNC:20626 CIB2 gene CIB2 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000136425 ENSG00000136425 HGNC:24579 CLDN14 gene CLDN14 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000159261 ENSG00000159261 HGNC:2035 CLDN9 gene CLDN9 Expert Review Green;Literature Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 116, MIM#619093 Hearing impairment;HP:0000365 31175426;19696885 False 3 50;50;0 1.85 True ENSG00000213937 ENSG00000213937 HGNC:2051 CLIC5 gene CLIC5 Expert Review Green;Literature Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Autosomal recessive nonsyndromic hearing loss 103, MONDO:0014469 Hearing impairment;HP:0000365 24781754;17021174 False 3 50;50;0 1.85 True ENSG00000112782 ENSG00000112782 HGNC:13517 CLPP gene CLPP Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000125656 ENSG00000125656 HGNC:2084 CLRN1 gene CLRN1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000163646 ENSG00000163646 HGNC:12605 COCH gene COCH Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal dominant 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 1.85 True ENSG00000100473 ENSG00000100473 HGNC:2180 COL11A1 gene COL11A1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000060718 ENSG00000060718 HGNC:2186 COL11A2 gene COL11A2 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal dominant 13, MIM# 601868;Deafness, autosomal recessive 53, MIM# 609706 Hearing impairment;HP:0000365 10581026;25633957;16033917 False 3 100;0;0 1.85 True ENSG00000204248 ENSG00000204248 HGNC:2187 COL2A1 gene COL2A1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000139219 ENSG00000139219 HGNC:2200 COL9A1 gene COL9A1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Stickler syndrome, type IV, MIM#614134 Hearing impairment;HP:0000365 False 3 100;0;0 1.85 True ENSG00000112280 ENSG00000112280 HGNC:2217 COL9A2 gene COL9A2 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000049089 ENSG00000049089 HGNC:2218 COL9A3 gene COL9A3 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Stickler syndrome Hearing impairment;HP:0000365 30450842;31090205;24273071 False 3 100;0;0 1.85 True ENSG00000092758 ENSG00000092758 HGNC:2219 CPD gene CPD Expert Review Green;Literature Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Nonsyndromic genetic hearing loss, MONDO:0019497, CPD-related Hearing impairment;HP:0000365 PMID: 41026541 False 3 100;0;0 1.85 True ENSG00000108582 ENSG00000108582 HGNC:2301 CRYM gene CRYM Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Deafness, autosomal dominant 40, MIM# 616357" Hearing impairment;HP:0000365 16740909;24676347;18448257;26915689;12471561;32742378 False 3 50;50;0 1.85 True ENSG00000103316 ENSG00000103316 HGNC:2418 DFNA5 gene DFNA5 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000105928 ENSG00000105928 HGNC:2810 DFNB59 gene DFNB59 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000204311 ENSG00000204311 HGNC:29502 DIAPH1 gene DIAPH1 Expert Review Green;Literature Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome, MONDO:0044635 Hearing impairment;HP:0000365 27707755;27808407;28003573;28815995;26912466 False 3 100;0;0 1.85 True ENSG00000131504 ENSG00000131504 HGNC:2876 DMXL2 gene DMXL2 Expert list;Expert Review Green Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 81, MIM#618663, with deafness;Autosomal dominant hearing loss Hearing impairment;HP:0000365 31688942;27657680;22875945;30732576;27657680 False 3 100;0;0 1.85 True ENSG00000104093 ENSG00000104093 HGNC:2938 EDN3 gene EDN3 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Waardenburg syndrome, type 4B, MIM# 613265 Hearing impairment;HP:0000365 8630502;19764030;11303518 False 3 100;0;0 1.85 True ENSG00000124205 ENSG00000124205 HGNC:3178 EDNRB gene EDNRB Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000136160 ENSG00000136160 HGNC:3180 EPS8 gene EPS8 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 102, MIM# 615974" Hearing impairment;HP:0000365 24741995 False 3 100;0;0 1.85 True ENSG00000151491 ENSG00000151491 HGNC:3420 EPS8L2 gene EPS8L2 Expert list;Expert Review Green Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Deafness autosomal recessive 106, MIM# 617637" Hearing impairment;HP:0000365 23918390;28281779;26282398 False 3 100;0;0 1.85 True ENSG00000177106 ENSG00000177106 HGNC:21296 ESPN gene ESPN Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal 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 1.85 True ENSG00000187017 ENSG00000187017 HGNC:13281 ESRRB gene ESRRB Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000119715 ENSG00000119715 HGNC:3473 EYA1 gene EYA1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiootic syndrome 1, MIM# 602588 Hearing impairment;HP:0000365 False 3 100;0;0 1.85 True ENSG00000104313 ENSG00000104313 HGNC:3519 GATA3 gene GATA3 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000107485 ENSG00000107485 HGNC:4172 GIPC3 gene GIPC3 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000179855 ENSG00000179855 HGNC:18183 GJB2 gene GJB2 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Keratitis-ichthyosis-deafness syndrome, MIM#148210;Deafness, autosomal dominant 3A, MIM#601544;Bart-Pumphrey syndrome, MIM#149200;Vohwinkel syndrome, MIM# 124500;Deafness, autosomal recessive 1A, MIM#220290;Keratoderma, palmoplantar, with deafness, MIM#148350;Hystrix-like ichthyosis with deafness, MIM#602540 Hearing impairment;HP:0000365 9529365;14985372;11354642;19941053 False 3 100;0;0 1.85 True Other ENSG00000165474 ENSG00000165474 HGNC:4284 GPR156 gene GPR156 Expert Review Green;Literature Deafness_Isolated 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 1.85 True ENSG00000175697 ENSG00000175697 HGNC:20844 GPSM2 gene GPSM2 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000121957 ENSG00000121957 HGNC:29501 GREB1L gene GREB1L Expert list;Expert Review Green Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Deafness, autosomal dominant 80, MIM# 619274" Hearing impairment;HP:0000365 29955957;32585897 False 3 100;0;0 1.85 True ENSG00000141449 ENSG00000141449 HGNC:31042 GRHL2 gene GRHL2 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000083307 ENSG00000083307 HGNC:2799 GRXCR1 gene GRXCR1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000215203 ENSG00000215203 HGNC:31673 GRXCR2 gene GRXCR2 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000204928 ENSG00000204928 HGNC:33862 HARS2 gene HARS2 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Perrault syndrome 2, MIM# 614926" Hearing impairment;HP:0000365 21464306;27650058;31486067;31827252 False 3 100;0;0 1.85 True ENSG00000112855 ENSG00000112855 HGNC:4817 HGF gene HGF Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 39, MIM# 608265 Hearing impairment;HP:0000365 19576567;27488639 False 3 100;0;0 1.85 True ENSG00000019991 ENSG00000019991 HGNC:4893 HOMER2 gene HOMER2 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 68, MIM# 616707 Hearing impairment;HP:0000365 25816005;30047143 False 3 0;0;0 1.85 True ENSG00000103942 ENSG00000103942 HGNC:17513 HSD17B4 gene HSD17B4 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000133835 ENSG00000133835 HGNC:5213 IKZF2 gene IKZF2 Expert Review Green;Literature Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted nonsyndromic genetic hearing loss MONDO:0019497, IKZF2-related Hearing impairment;HP:0000365 PMID: 39406892 False 3 100;0;0 1.85 True ENSG00000030419 ENSG00000030419 HGNC:13177 ILDR1 gene ILDR1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000145103 ENSG00000145103 HGNC:28741 KARS gene KARS Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 89, MIM# 613916" Hearing impairment;HP:0000365 14975237;23768514 False 3 100;0;0 1.85 True ENSG00000065427 ENSG00000065427 HGNC:6215 KCNE1 gene KCNE1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000180509 ENSG00000180509 HGNC:6240 KCNQ1 gene KCNQ1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Jervell and Lange-Nielsen syndrome, MIM# 220400 Hearing impairment;HP:0000365 False 3 100;0;0 1.85 True ENSG00000053918 ENSG00000053918 HGNC:6294 KCNQ4 gene KCNQ4 Expert list;Expert Review Green Deafness_Isolated 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 1.85 True ENSG00000117013 ENSG00000117013 HGNC:6298 KIAA1024L gene KIAA1024L Expert Review Green;Literature Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 120, OMIM:620238 Hearing impairment;HP:0000365 35727972 False 3 100;0;0 1.85 True ENSG00000186367 ENSG00000186367 HGNC:33914 KIT gene KIT Expert list;Expert Review Green Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Piebaldism, MIM# 172800" Hearing impairment;HP:0000365 False 3 100;0;0 1.85 True ENSG00000157404 ENSG00000157404 HGNC:6342 LARS2 gene LARS2 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 4, MIM#615300 Hearing impairment;HP:0000365 23541342;27650058;26970254;26657938;28832386;28000701;29205794 False 3 100;0;0 1.85 True ENSG00000011376 ENSG00000011376 HGNC:17095 LHFPL5 gene LHFPL5 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000197753 ENSG00000197753 HGNC:21253 LMX1A gene LMX1A Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 29971487;29754270;32840933 False 3 50;50;0 1.85 True ENSG00000162761 ENSG00000162761 HGNC:6653 LOXHD1 gene LOXHD1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000167210 ENSG00000167210 HGNC:26521 LRTOMT gene LRTOMT Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000184154 ENSG00000184154 HGNC:25033 MARVELD2 gene MARVELD2 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000152939 ENSG00000152939 HGNC:26401 MITF gene MITF Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Waardenburg syndrome, type 2A, MIM# 193510 Hearing impairment;HP:0000365 7874167;23512835;27759048;28356565;9499424;27349893 False 3 100;0;0 1.85 True ENSG00000187098 ENSG00000187098 HGNC:7105 MPZL2 gene MPZL2 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000149573 ENSG00000149573 HGNC:3496 MSRB3 gene MSRB3 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 74, MIM# 613718 Hearing impairment;HP:0000365 21185009;24191262;19650862 False 3 0;0;0 1.85 True ENSG00000174099 ENSG00000174099 HGNC:27375 MYH14 gene MYH14 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000105357 ENSG00000105357 HGNC:23212 MYH9 gene MYH9 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000100345 ENSG00000100345 HGNC:7579 MYO15A gene MYO15A Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000091536 ENSG00000091536 HGNC:7594 MYO6 gene MYO6 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000196586 ENSG00000196586 HGNC:7605 MYO7A gene MYO7A Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal dominant 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 1.85 True ENSG00000137474 ENSG00000137474 HGNC:7606 OSBPL2 gene OSBPL2 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 67, MIM# 616340 Hearing impairment;HP:0000365 30894143;31451425;25759012;25077649 False 3 100;0;0 1.85 True ENSG00000130703 ENSG00000130703 HGNC:15761 OTOA gene OTOA Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000155719 ENSG00000155719 HGNC:16378 OTOF gene OTOF Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 22906306;16371502 False 3 100;0;0 1.85 True ENSG00000115155 ENSG00000115155 HGNC:8515 OTOG gene OTOG Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 18B, MIM#614945 Hearing impairment;HP:0000365 23122587;29800624 False 3 100;0;0 1.85 True ENSG00000188162 ENSG00000188162 HGNC:8516 OTOGL gene OTOGL Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000165899 ENSG00000165899 HGNC:26901 P2RX2 gene P2RX2 Expert list;Expert Review Green Deafness_Isolated 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 1.85 True ENSG00000187848 ENSG00000187848 HGNC:15459 PAX3 gene PAX3 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000135903 ENSG00000135903 HGNC:8617 PCDH15 gene PCDH15 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000150275 ENSG00000150275 HGNC:14674 PDZD7 gene PDZD7 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000186862 ENSG00000186862 HGNC:26257 PKHD1L1 gene PKHD1L1 Expert Review Green;Literature Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal non syndromic hearing loss (MONDO:0020678) Hearing impairment;HP:0000365 38459354 False 3 100;0;0 1.85 True ENSG00000205038 ENSG00000205038 HGNC:20313 PLS1 gene PLS1 Expert Review Green;Literature Deafness_Isolated 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 1.85 True ENSG00000120756 ENSG00000120756 HGNC:9090 POU3F4 gene POU3F4 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Deafness, X-linked 2, MIM# 304400 Hearing impairment;HP:0000365 31786483;30176854 False 3 100;0;0 1.85 True ENSG00000196767 ENSG00000196767 HGNC:9217 PRPS1 gene PRPS1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000147224 ENSG00000147224 HGNC:9462 PTPRQ gene PTPRQ Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal 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 1.85 True ENSG00000139304 ENSG00000139304 HGNC:9679 RDX gene RDX Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000137710 ENSG00000137710 HGNC:9944 S1PR2 gene S1PR2 Expert list;Expert Review Green Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 68, MIM# 610419" Hearing impairment;HP:0000365 29776397;27383011;26805784 False 3 100;0;0 1.85 True ENSG00000267534 ENSG00000267534 HGNC:3169 SERPINB6 gene SERPINB6 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 91, MIM# 613453 Hearing impairment;HP:0000365 25719458;23669344;20451170 False 3 100;0;0 1.85 True ENSG00000124570 ENSG00000124570 HGNC:8950 SIX1 gene SIX1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 23, MIM# 605192;Brancio-otic syndrome MIM# 608389 Hearing impairment;HP:0000365 15141091;18330911;21254961;17637804;29500469;21700001;24164807 False 3 100;0;0 1.85 True ENSG00000126778 ENSG00000126778 HGNC:10887 SLC26A4 gene SLC26A4 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 19204907;9618167 False 3 100;0;0 1.85 True ENSG00000091137 ENSG00000091137 HGNC:8818 SLITRK6 gene SLITRK6 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness and myopia, MIM#221200 Hearing impairment;HP:0000365 29551497;23543054 False 3 100;0;0 1.85 True ENSG00000184564 ENSG00000184564 HGNC:23503 SMPX gene SMPX Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Deafness, X-linked 4, MIM# 300066 Hearing impairment;HP:0000365 21549342;21549336;21893181;22911656;28542515 False 3 100;0;0 1.85 True ENSG00000091482 ENSG00000091482 HGNC:11122 SOX10 gene SOX10 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000100146 ENSG00000100146 HGNC:11190 SPATA5L1 gene SPATA5L1 Expert Review Green;Literature Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 119, MIM# 619615 Hearing impairment;HP:0000365 34626583 False 3 100;0;0 1.85 True ENSG00000171763 ENSG00000171763 HGNC:28762 STRC gene STRC Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000242866 ENSG00000242866 HGNC:16035 SYNE4 gene SYNE4 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 76, MIM# 615540 Hearing impairment;HP:0000365 28958982;23348741 False 3 100;0;0 1.85 True ENSG00000181392 ENSG00000181392 HGNC:26703 TBC1D24 gene TBC1D24 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal dominant 65, MIM#616044;DOORS syndrome, MIM#220500;Deafness , autosomal recessive 86, MIM#614617 Hearing impairment;HP:0000365 24387994;24729539;24729547;24291220 False 3 100;0;0 1.85 True ENSG00000162065 ENSG00000162065 HGNC:29203 TECTA gene TECTA Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal recessive 21 603629;Deafness, autosomal dominant 8/12 601543 Hearing impairment;HP:0000365 22718023;17136632;31554319;21520338 False 3 100;0;0 1.85 True ENSG00000109927 ENSG00000109927 HGNC:11720 TIMM8A gene TIMM8A Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000126953 ENSG00000126953 HGNC:11817 TMC1 gene TMC1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal dominant 36, MIM# 606705;Deafness, autosomal recessive 7, MIM# 600974 Hearing impairment;HP:0000365 11850618;17250663;18616530;24827932;11850623;22105175 False 3 100;0;0 1.85 True ENSG00000165091 ENSG00000165091 HGNC:16513 TMIE gene TMIE Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000181585 ENSG00000181585 HGNC:30800 TMPRSS3 gene TMPRSS3 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000160183 ENSG00000160183 HGNC:11877 TPRN gene TPRN Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000176058 ENSG00000176058 HGNC:26894 TRIOBP gene TRIOBP Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000100106 ENSG00000100106 HGNC:17009 TUBB4B gene TUBB4B Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leber congenital amaurosis with early-onset deafness Hearing impairment;HP:0000365 29198720 False 3 100;0;0 1.85 True ENSG00000188229 ENSG00000188229 HGNC:20771 USH1C gene USH1C Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 1C, MIM# 276904;Deafness, autosomal recessive 18A, MIM# 602092 Hearing impairment;HP:0000365 10973247;10973248;11239869;21203349;12107438 False 3 100;0;0 1.85 True ENSG00000006611 ENSG00000006611 HGNC:12597 USH1G gene USH1G Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 1G, MIM# 606943 Hearing impairment;HP:0000365 False 3 100;0;0 1.85 True ENSG00000182040 ENSG00000182040 HGNC:16356 USH2A gene USH2A Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 2A, MIM# 276901 Hearing impairment;HP:0000365 False 3 100;0;0 1.85 True ENSG00000042781 ENSG00000042781 HGNC:12601 USP48 gene USP48 Expert Review Green;Literature Deafness_Isolated 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 1.85 True ENSG00000090686 ENSG00000090686 HGNC:18533 WFS1 gene WFS1 Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal dominant 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 1.85 True ENSG00000109501 ENSG00000109501 HGNC:12762 WHRN gene WHRN Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000095397 ENSG00000095397 HGNC:16361 CACNA1D gene CACNA1D Expert Review Amber;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000157388 ENSG00000157388 HGNC:1391 CCDC50 gene CCDC50 Expert Review Amber;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Deafness, autosomal dominant 44, MIM# 607453;Childhood onset deafness, progressive" Hearing impairment;HP:0000365 24875298;27911912;17503326 False 2 0;100;0 1.85 True ENSG00000152492 ENSG00000152492 HGNC:18111 CLRN2 gene CLRN2 Expert Review Amber;Literature Deafness_Isolated 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 1.85 True ENSG00000249581 ENSG00000249581 HGNC:33939 DIABLO gene DIABLO Expert Review Amber;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Deafness, autosomal dominant 64, MIM# 614152" Hearing impairment;HP:0000365 10929711;21722859;26969326 False 2 0;0;100 1.85 True ENSG00000184047 ENSG00000184047 HGNC:21528 DIAPH3 gene DIAPH3 Expert Review Amber;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Auditory neuropathy, autosomal dominant, 1, MIM#609129 Hearing impairment;HP:0000365 20624953;23441200;27658576 False 2 0;0;100 1.85 True ENSG00000139734 ENSG00000139734 HGNC:15480 GAS2 gene GAS2 Expert Review Amber;Literature Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 125, MIM#620877 Hearing impairment;HP:0000365 33964205 False 2 0;100;0 1.85 True ENSG00000148935 ENSG00000148935 HGNC:4167 KITLG gene KITLG Expert list;Expert Review Amber Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697" Hearing impairment;HP:0000365 26522471 False 2 0;100;0 1.85 True ENSG00000049130 ENSG00000049130 HGNC:6343 MEPE gene MEPE Expert Review;Expert Review Amber Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nonsyndromic genetic hearing loss, MONDO:0019497, MEPE-related;hereditary congenital facial paresis;otosclerosis Hearing impairment;HP:0000365 30287925 False 2 0;100;0 1.85 True ENSG00000152595 ENSG00000152595 HGNC:13361 MIR96 gene MIR96 Expert Review Amber;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated 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 1.85 True ENSG00000199158 ENSG00000199158 HGNC:31648 NARS2 gene NARS2 Expert list;Expert Review Amber Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 94, MIM#618434 Hearing impairment;HP:0000365 25807530 False 2 0;100;0 1.85 True ENSG00000137513 ENSG00000137513 HGNC:26274 PPIP5K2 gene PPIP5K2 Expert list;Expert Review Amber Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 100, MIM# 618422" Hearing impairment;HP:0000365 29590114 False 2 0;100;0 1.85 True ENSG00000145725 ENSG00000145725 HGNC:29035 REST gene REST Expert list;Expert Review Amber Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 27, MIM# 612431 Hearing impairment;HP:0000365 29961578;34828371 False 2 0;100;0 1.85 True ENSG00000084093 ENSG00000084093 HGNC:9966 RIPOR2 gene RIPOR2 Expert list;Expert Review Amber Deafness_Isolated 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 1.85 True ENSG00000111913 ENSG00000111913 HGNC:13872 ROR1 gene ROR1 Expert list;Expert Review Amber Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 108, MIM# 617654" Hearing impairment;HP:0000365 27162350 False 2 0;100;0 1.85 True ENSG00000185483 ENSG00000185483 HGNC:10256 SLC26A5 gene SLC26A5 Expert list;Expert Review Amber Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 61, MIM# 613865" Hearing impairment;HP:0000365 26969326;24164807;12239568;10821263;11423665;12719379;18466744;27091614;17998209 False 2 0;100;0 1.85 True ENSG00000170615 ENSG00000170615 HGNC:9359 SNAI2 gene SNAI2 Expert Review Amber;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Waardenburg syndrome, type 2D, MIM# 608890 Hearing impairment;HP:0000365 30936914;12444107 False 2 0;100;0 1.85 True ENSG00000019549 ENSG00000019549 HGNC:11094 SPATC1L gene SPATC1L Expert list;Expert Review Amber Deafness_Isolated Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness Hearing impairment;HP:0000365 30177775 False 2 0;100;0 1.85 True ENSG00000160284 ENSG00000160284 HGNC:1298 SPNS2 gene SPNS2 Expert list;Expert Review Amber Deafness_Isolated 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 1.85 True ENSG00000183018 ENSG00000183018 HGNC:26992 STX4 gene STX4 Expert Review Amber;Literature Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 123, MIM# 620745 Hearing impairment;HP:0000365 36355422 False 2 0;100;0 1.85 True ENSG00000103496 ENSG00000103496 HGNC:11439 TMEM132E gene TMEM132E Expert list;Expert Review Amber Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 99, MIM# 618481" Hearing impairment;HP:0000365 25331638 False 2 0;100;0 1.85 True ENSG00000181291 ENSG00000181291 HGNC:26991 TMEM43 gene TMEM43 Expert Review Amber;Literature Deafness_Isolated 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 1.85 True ENSG00000170876 ENSG00000170876 HGNC:28472 TNC gene TNC Expert Review Amber;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 56, MIM# 615629 Hearing impairment;HP:0000365 23936043;34093110;33763067 False 2 0;100;0 1.85 True ENSG00000041982 ENSG00000041982 HGNC:5318 TOP2B gene TOP2B Expert Review Amber;Literature Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autosomal dominant deafness Hearing impairment;HP:0000365 31198993 False 2 0;100;0 1.85 True ENSG00000077097 ENSG00000077097 HGNC:11990 WBP2 gene WBP2 Expert list;Expert Review Amber Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 107, MIM# 617639" Hearing impairment;HP:0000365 26881968 False 2 0;100;0 1.85 True ENSG00000132471 ENSG00000132471 HGNC:12738 ADAMTS1 gene ADAMTS1 Expert Review Red;Literature Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Nonsyndromic genetic hearing loss MONDO:0019497, ADAMTS1-related Hearing impairment;HP:0000365 34135477 False 1 0;0;100 1.85 True ENSG00000154734 ENSG00000154734 HGNC:217 ANKRD24 gene ANKRD24 Expert Review Red;Literature Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal sensorineural hearing loss disorder MONDO:0020678, ANKRD24-related Hearing impairment;HP:0000365 PMID: 39434538 False 1 0;0;100 1.85 True ENSG00000089847 ENSG00000089847 HGNC:29424 CEACAM16 gene CEACAM16 Expert Review Green;Expert Review Red;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal dominant 4B, MIM# 614614;Deafness, autosomal recessive 113, MIM# 618410 Hearing impairment;HP:0000365 25589040;21368133;22544735;31249509;29703829;30514912 False 1 50;0;50 1.85 True ENSG00000213892 ENSG00000213892 HGNC:31948 CENPP gene CENPP Expert Review Red;Literature Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autosomal dominant nonsyndromic hearing loss;MONDO:0019587 Hearing impairment;HP:0000365 36071244 False 1 0;0;100 1.85 True ENSG00000188312 ENSG00000188312 HGNC:32933 ELMOD3 gene ELMOD3 Expert Review Red;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal dominant 81, MIM# 619500;Deafness, autosomal recessive 88, MIM# 615429 Hearing impairment;HP:0000365 31628468;30284680;24039609;29713870 False 1 0;0;100 1.85 True ENSG00000115459 ENSG00000115459 HGNC:26158 ESRP1 gene ESRP1 Expert list;Expert Review Red Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 109, MIM# 618013" Hearing impairment;HP:0000365 29107558 False 1 0;50;50 1.85 True ENSG00000104413 ENSG00000104413 HGNC:25966 FOXI1 gene FOXI1 Expert Review Red;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal enlarged vestibular aqueduct syndrome MONDO:0023069 Hearing impairment;HP:0000365 9843211;29242249;17503324 False 1 50;0;50 1.85 True ENSG00000168269 ENSG00000168269 HGNC:3815 FOXL1 gene FOXL1 Expert Review Red;Literature Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Otosclerosis 11 #MIM620576 Hearing impairment;HP:0000365 PMID: 34633540 False 1 0;0;100 1.85 True ENSG00000176678 ENSG00000176678 HGNC:3817 GOSR2 gene GOSR2 Expert Review;Expert Review Red Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal hearing loss, autosomal recessive, MONDO:0019588, GOSR2-related Hearing impairment;HP:0000365 37074134 False 1 0;0;100 1.85 True ENSG00000108433 ENSG00000108433 HGNC:4431 MAP3K1 gene MAP3K1 Expert Review Red;Literature Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Hearing loss disorder, MONDO:0005365, MAP3K1-related Hearing impairment;HP:0000365 39062623 False 1 0;0;100 1.85 True ENSG00000095015 ENSG00000095015 HGNC:6848 MPDZ gene MPDZ Expert Review Red;Literature Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Nonsyndromic genetic hearing loss MONDO:0019497, MPDZ-related Hearing impairment;HP:0000365 34135477;29026089 False 1 0;100;0 1.85 True ENSG00000107186 ENSG00000107186 HGNC:7208 MVD gene MVD Expert Review Red;Literature Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Nonsyndromic genetic hearing loss MONDO:0019497, MPDZ-related Hearing impairment;HP:0000365 34135477 False 1 0;0;100 1.85 True ENSG00000167508 ENSG00000167508 HGNC:7529 NCOA3 gene NCOA3 Expert Review Red;Literature Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Non-syndromic hearing loss Hearing impairment;HP:0000365 33326993 False 1 0;0;100 1.85 True ENSG00000124151 ENSG00000124151 HGNC:7670 SEZ6 gene SEZ6 Expert Review Red;Literature Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Nonsyndromic genetic hearing loss MONDO:0019497, SEZ6-related Hearing impairment;HP:0000365 34135477 False 1 0;0;100 1.85 True ENSG00000063015 ENSG00000063015 HGNC:15955 SMARCA4 gene SMARCA4 Expert Review Red;Literature Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Otosclerosis MONDO:0005349, SMARCA4-related Hearing impairment;HP:0000365 37399313 False 1 0;100;0 1.85 True ENSG00000127616 ENSG00000127616 HGNC:11100 TECTB gene TECTB Expert Review Red;Literature Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hearing loss disorder, MONDO:0005365, TECTB-related Hearing impairment;HP:0000365 40832383 False 1 0;0;100 1.85 True ENSG00000119913 ENSG00000119913 HGNC:11721 TMTC2 gene TMTC2 Expert Review Red;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Deafness_Isolated Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal dominant;Deafness, autosomal recessive 122, MIM# 620714 Hearing impairment;HP:0000365 29671961;27311106;37943620;30188326 False 1 0;0;100 1.85 True ENSG00000179104 ENSG00000179104 HGNC:25440 TOGARAM2 gene TOGARAM2 Expert Review Red;Literature Deafness_Isolated Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Nonsyndromic genetic hearing loss (MONDO:0019497), TOGARAM2-related Hearing impairment;HP:0000365 PMID:38374469 False 1 0;0;100 1.85 True ENSG00000189350 ENSG00000189350 HGNC:33715 TRRAP gene TRRAP Expert Review Red;Literature Deafness_Isolated Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Deafness, autosomal dominant 75 MIM#618778 Hearing impairment;HP:0000365 PMID: 31231791 False 1 0;0;100 1.85 True ENSG00000196367 ENSG00000196367 HGNC:12347 POU3F4 upstream regulatory region region Literature;Literature Deafness_Isolated Hearing and ear disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Deafness, X-linked 2 MIM#304400 Hearing impairment;HP:0000365 PMID: 41170199, 35189936, 33860785 False 1 0;100;0 1.85 False X 81596036 83342824 70 cnv_loss POU3F4 upstream regulatory region