Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ABCC1 gene ABCC1 Expert Review Amber;Literature Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nonsyndromic hearing loss;?Deafness, autosomal dominant 77, 618915 31273342 False 2 0;100;0 5.73 False ENSG00000103222 ENSG00000103222 HGNC:51 ACOX1 gene ACOX1 Expert Review Amber Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 100;0;0 5.73 False ENSG00000161533 ENSG00000161533 HGNC:119 AP1B1 gene AP1B1 ClinGen;Expert Review Amber;Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Keratitis-ichthyosis-deafness syndrome, autosomal recessive, OMIM:242150;KID syndrome, MONDO:0018781 31630791;33452671;33349978;32969855;35144013 False 2 100;0;0 5.73 False ENSG00000100280 ENSG00000100280 HGNC:554 ARSG gene ARSG Expert Review Amber;Other Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type IV, OMIM:618144;usher syndrome, type 4, MONDO:0029141 29300381;32455177;33300174;33629623;35226187 False 2 100;0;0 5.73 False ENSG00000141337 ENSG00000141337 HGNC:24102 ATOH1 gene ATOH1 Expert;Expert Review Amber Monogenic hearing loss Audiology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal ?Deafness, autosomal dominant 89 , OMIM:620284;hearing loss, autosomal dominant 89, MONDO:0859528;pontocerebellar hypoplasia, MONDO:0020135 9367153;21146598;33111345;35518571;41592563 False 2 33;0;67 5.73 False ENSG00000172238 ENSG00000172238 HGNC:797 CACNA1D gene CACNA1D Expert;Expert Review Amber;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Sinoatrial node dysfunction and deafness, OMIM:614896;sinoatrial node dysfunction and deafness, MONDO:0013960 10929716;21131953;30498240;30054272;32747562 False 2 100;0;0 5.73 False ENSG00000157388 ENSG00000157388 HGNC:1391 CLIC5 gene CLIC5 Expert;Expert Review Amber;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal #616042:?Deafness, autosomal recessive 103;PMID: 24781754 (Nijjmegen group) progressive hearing impairment, vestibular and possibly mild renal dysfunction PMID:10793131;17021174;18028448;24781754 False 2 50;50;0 5.73 True ENSG00000112782 ENSG00000112782 HGNC:13517 CLRN2 gene CLRN2 Expert Review Amber;Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal ?Deafness, autosomal recessive 117, OMIM:619174;deafness, autosomal recessive 117, MONDO:0030905 33496845 False 2 0;100;0 5.73 False ENSG00000249581 ENSG00000249581 HGNC:33939 COG4 gene COG4 Expert Review Amber;Literature Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Saul-Wilson syndrome, OMIM:618150;microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407 31949312;30290151 False 2 0;100;0 5.73 False Other ENSG00000103051 ENSG00000103051 HGNC:18620 COL4A6 gene COL4A6 Expert;Expert Review Amber;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Deafness, X-linked 6, OMIM:300914 PMID: 23714752;7592929;7711741;7972123;8125972;8175748;8356449;8661006;9463311 False 2 33;0;67 5.73 True ENSG00000197565 ENSG00000197565 HGNC:2208 DHRSX gene DHRSX Expert Review Amber Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type 1DD, OMIM:301133 38821050 False 2 20;20;60 5.73 False ENSG00000169084 ENSG00000169084 HGNC:18399 DIABLO gene DIABLO Emory Genetics Laboratory;Expert;Expert Review Amber;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown hearing loss;#614152:Deafness, autosomal dominant 64 10929711;10929712;10972280;11140637;11140638;11242052;11971981;15557007;15814844;21722859;21722859;26969326 False 2 0;50;50 5.73 True ENSG00000184047 ENSG00000184047 HGNC:21528 DIAPH3 gene DIAPH3 Expert Review Amber;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Auditory neuropathy, autosomal dominant, 1, 609129 14767582;15520414;18755006;19457867;20624953;20624953;27658576 False 2 50;0;50 5.73 True Other - please provide details in the comments ENSG00000139734 ENSG00000139734 HGNC:15480 ELMOD3 gene ELMOD3 Expert;Expert Review Amber;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Deafness, autosomal recessive 88, 615429;Deafness, autosomal dominant 240396609;31628468;30284680;29713870 False 2 0;100;0 5.73 False ENSG00000115459 ENSG00000115459 HGNC:26158 ESRP1 gene ESRP1 Expert list;Expert Review Amber Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 109, 618013 29107558 False 2 0;100;0 5.73 False ENSG00000104413 ENSG00000104413 HGNC:25966 FOXF2 gene FOXF2 Expert Review Amber;Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal profound sensorineural hearing loss (SNHL);cochlea malformations;incomplete partition type I anomaly of the cochlea 30561639;22022403 False 2 0;100;0 5.73 False ENSG00000137273 ENSG00000137273 HGNC:3810 GJB3 gene GJB3 Emory Genetics Laboratory;Expert;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal hearing loss;Nonsyndromic Hearing Loss, Dominant;Erythrokeratodermia variabilis et progressiva, 133200;Deafness, autosomal dominant 2B, 612644;Deafness, autosomal recessive;Deafness, autosomal dominant, with peripheral neuropathy;Deafness, digenic, GJB2/GJB3, 220290 PMID:10587579;10594760;10757647;10798362;11175305;11309368;12019212;12165562;12452892;14583444;16549784;17446259;1828175;19050930;19755382;9347797;9704026;9843209;9843210 False 2 25;50;25 5.73 True ENSG00000188910 ENSG00000188910 HGNC:4285 HOMER2 gene HOMER2 Expert list;Expert Review Amber Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Deafness, autosomal dominant 68, MIM#616707 25816005;30047143;25816005 False 2 50;50;0 5.73 False ENSG00000103942 ENSG00000103942 HGNC:17513 KDM3B gene KDM3B Expert Review Amber;Victorian Clinical Genetics Services Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diets-Jongmans syndrome, OMIM:618846;Diets-Jongmans syndrome, MONDO:0030012 30929739 False 2 50;50;0 5.73 False ENSG00000120733 ENSG00000120733 HGNC:1337 KIAA0391 gene KIAA0391 Expert Review Amber;Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 54, OMIM:619737 34715011;37558808 False 2 100;0;0 5.73 False ENSG00000100890 ENSG00000100890 HGNC:19958 KITLG gene KITLG Expert;Expert Review Amber Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Deafness, autosomal dominant 69, unilateral or asymmetric 616697 26522471;28504826 False 2 0;100;0 5.73 False ENSG00000049130 ENSG00000049130 HGNC:6343 MET gene MET Expert list;Expert Review Amber Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 97 OMIM:616705;autosomal recessive nonsyndromic deafness 97 MONDO:0014739" 25941349;27717089 False 2 0;100;0 5.73 False ENSG00000105976 ENSG00000105976 HGNC:7029 MIR96 gene MIR96 Expert;Expert Review Amber;UKGTN Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Deafness, autosomal dominant 50 613074 19363479;22038834;30245029 False 2 0;100;0 5.73 False ENSG00000199158 ENSG00000199158 HGNC:31648 MORC2 gene MORC2 Expert Review Amber;Literature Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688;Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, OMIM:619090 32693025 False 2 100;0;0 5.73 False ENSG00000133422 ENSG00000133422 HGNC:23573 MT-CO1 gene MT-CO1 Expert Review Amber;Literature Monogenic hearing loss Audiology MITOCHONDRIAL Deafness, non-syndromic sensorineural, mitochondrial, OMIM: 500008;mitochondrial non-syndromic sensorineural hearing loss, MONDO:0010779 10577941;16152638;9832034;30035268;26328603;29605341;32169613 False 2 100;0;0 5.73 False ENSG00000198804 ENSG00000198804 HGNC:7419 MT-TK gene MT-TK Expert Review Amber;Literature Monogenic hearing loss Audiology MITOCHONDRIAL MERRF syndrome, MONDO:0010790;Sensorineural hearing impairment, HP:0000407 8651277;1899320;23224446 False 2 100;0;0 5.73 False Other ENSG00000210156 ENSG00000210156 HGNC:7489 MT-TL1 gene MT-TL1 Expert Review Amber;UKGTN Monogenic hearing loss Audiology MITOCHONDRIAL MELAS syndrome caused by mutation in MTTL1, MONDO:0800032;maternally-inherited diabetes and deafness, MONDO:0010785;Sensorineural hearing impairment, HP:0000407 22403016;23355809;35455034 False 2 67;0;33 5.73 False ENSG00000209082 ENSG00000209082 HGNC:7490 MT-TS2 gene MT-TS2 Expert Review Amber;Literature Monogenic hearing loss Audiology MITOCHONDRIAL Sensorineural hearing impairment, HP:0000407 9792552;10090882;12086967 False 2 100;0;0 5.73 False Other ENSG00000210184 ENSG00000210184 HGNC:7498 NARS2 gene NARS2 Expert list;Expert Review Amber Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 94 OMIM:618434;Combined oxidative phosphorylation deficiency 24 OMIM:616239;deafness, autosomal recessive 94 MONDO:0032749;combined oxidative phosphorylation defect type 24 MONDO:0014547 25807530;28077841;30327238;25385316 False 2 0;50;50 5.73 False ENSG00000137513 ENSG00000137513 HGNC:26274 NTN1 gene NTN1 Expert;Expert Review Amber Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted sensorineural hearing loss disorder, MONDO:0020678 28945198;39648562 False 2 0;50;50 5.73 False ENSG00000065320 ENSG00000065320 HGNC:8029 OXR1 gene OXR1 Expert Review Amber;Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal sensorineural hearing loss disorder, MONDO:0020678 36130215 False 2 0;100;0 5.73 False ENSG00000164830 ENSG00000164830 HGNC:15822 PDSS1 gene PDSS1 Expert Review Amber;Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 2, OMIM:614651 33285023;17332895 False 2 0;100;0 5.73 False ENSG00000148459 ENSG00000148459 HGNC:17759 PLCG1 gene PLCG1 Expert Review Amber;Literature Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hearing impairment;ophthalmologic abnormalities;cardiac septal defects 38260438 False 2 0;100;0 5.73 False ENSG00000124181 ENSG00000124181 HGNC:9065 PMP22 gene PMP22 Expert;Expert Review Amber Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, type 1E OMIM:118300;Charcot-Marie-Tooth disease type 1E MONDO:0007311 8355122;10330345;12578939 False 2 0;100;0 5.73 False ENSG00000109099 ENSG00000109099 HGNC:9118 PPIP5K2 gene PPIP5K2 Expert list;Expert Review Amber Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 100, MIM#618422;deafness, autosomal recessive 100 MONDO:0032740 29590114 False 2 0;100;0 5.73 False ENSG00000145725 ENSG00000145725 HGNC:29035 PTRH2 gene PTRH2 Expert Review Amber;Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, OMIM:616263;neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1, MONDO:8000012 25574476;25558065;27129381;31057140 False 2 100;0;0 5.73 False ENSG00000141378 ENSG00000141378 HGNC:24265 RIPOR2 gene RIPOR2 Expert list;Expert Review Amber;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal dominant 21, OMIM:607017;?Deafness, autosomal recessive 104, OMIM:616515 27269051;24958875;32631815;37864412 False 2 25;75;0 5.73 False ENSG00000111913 ENSG00000111913 HGNC:13872 ROR1 gene ROR1 Expert list;Expert Review Amber Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 108, MIM#617654;deafness, autosomal recessive 108 MONDO:0033200 27162350 False 2 0;100;0 5.73 False ENSG00000185483 ENSG00000185483 HGNC:10256 SLC19A2 gene SLC19A2 Expert;Expert Review Amber Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270;thiamine-responsive megaloblastic anemia syndrome, MONDO:0009575 11386850;31095747;38037112;40220483 False 2 100;0;0 5.73 False ENSG00000117479 ENSG00000117479 HGNC:10938 SNAI2 gene SNAI2 Expert;Expert Review Amber;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Waardenburg syndrome, type 2D, OMIM:608890;Waardenburg syndrome type 2, MONDO_0019517 PMID: 10518215;12149208;12444107;12955764;15691760;16142232;16286009;17905753;21512031;24443330;26331542;7513443;9182671;9337409;9721220 False 2 33;67;0 5.73 True ENSG00000019549 ENSG00000019549 HGNC:11094 SOX2 gene SOX2 Expert;Expert Review Amber;NHS GMS Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted #206900:Optic nerve hypoplasia and abnormalities of the central nervous system;Hearing loss, sensorineural PMID:10564870;11135495;12002146;12036291;12461687;12612584;14517545;15240551;15346919;15389708;15812812;15846349;16145681;16283891;16470798;16543359;16651659;16712695;16892407;16904174;16932809;17015430;17219395;17515932;17522155;17554336;17554338;18029452;18157115;18285410;18385377;18806776;18818365;18831064;18845712;19254784;19403656;19801978;19898493;19921648;20803647;21326281;21331042;21532573;21919124;24048479;24909994;7849401;8741917;30262714;16932809;16145681 False 2 25;75;0 5.73 True ENSG00000181449 ENSG00000181449 HGNC:11195 SPATC1L gene SPATC1L Expert list;Expert Review Amber Monogenic hearing loss Audiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness 30177775 False 2 0;100;0 5.73 False ENSG00000160284 ENSG00000160284 HGNC:1298 SPNS2 gene SPNS2 Expert list;Expert Review Amber Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 115, MIM#618457 30973865;25356849 False 2 0;100;0 5.73 False ENSG00000183018 ENSG00000183018 HGNC:26992 SPTBN4 gene SPTBN4 Expert Review Amber;Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, OMIM:617519 28540413;29861105;31230720;32672909 False 2 0;100;0 5.73 False ENSG00000160460 ENSG00000160460 HGNC:14896 STX4 gene STX4 Expert Review Amber;Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Hearing impairment, HP:0000365 36355422 False 2 0;100;0 5.73 False ENSG00000103496 ENSG00000103496 HGNC:11439 STXBP3 gene STXBP3 Expert Review;Expert Review Amber Monogenic hearing loss Audiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Very Early Onset Inflammatory Bowel Disease;Sensorineural hearing loss 33346580;https://doi.org/10.1053/j.gastro.2017.11.120;33891011 False 2 33;67;0 5.73 False ENSG00000116266 ENSG00000116266 HGNC:11446 TBX2 gene TBX2 Expert Review Amber;Literature Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hearing loss disorder, MONDO:0005365 15459098;20206336;21271665;22052739;35508658 False 2 100;0;0 5.73 False ENSG00000121068 ENSG00000121068 HGNC:11597 THOC1 gene THOC1 Expert Review Amber;Literature Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nonsyndromic hearing loss;nonsyndromic genetic deafness MONDO:0019497 32776944 False 2 0;100;0 5.73 False ENSG00000079134 ENSG00000079134 HGNC:19070 TMTC2 gene TMTC2 Expert list;Expert Review Amber Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Deafness;Sensorineural hearing loss 29671961;27311106 False 2 0;100;0 5.73 False ENSG00000179104 ENSG00000179104 HGNC:25440 TNC gene TNC Expert;Expert Review Amber;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Deafness, autosomal dominant 56, 615629 23936043 False 2 0;100;0 5.73 False ENSG00000041982 ENSG00000041982 HGNC:5318 TOP2B gene TOP2B Expert list;Expert Review Amber Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Deafness, autosomal dominant;nonsyndromic hearing loss 31198993 False 2 0;100;0 5.73 False ENSG00000077097 ENSG00000077097 HGNC:11990 WBP2 gene WBP2 Expert list;Expert Review Amber Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 107, 617639 26881968 False 2 0;100;0 5.73 False ENSG00000132471 ENSG00000132471 HGNC:12738 YARS gene YARS Expert Review Amber;Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal "Charcot-Marie-Tooth disease, dominant intermediate C 608323;Intellectual disability;deafness;nystagmus;liver dysfunction" 30304524;29232904;27633801 False 2 0;100;0 5.73 False ENSG00000134684 ENSG00000134684 HGNC:12840