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 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal hearing loss;Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674;Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC);Hearing loss;Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC);Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674;#612674;Hearing loss, sensorineural;Subcapsular cataracts;Retinitis pigmentosa;Optic atrophy;Nystagmus;Pes cavus Achilles tendon contracture;Distal muscle atrophy due to neurologic disease;Ataxia Spasticity Extensor plantar responses;Hyperreflexia Intention;tremor;Dysarthria Dysmetria Cerebellar atrophy;Sensorimotor peripheral neuropathy;Distal sensory loss;Demyelinating neuropathy;Hyporeflexia;Decreased nerve conduction velocities;Normal serum phytanic and pristanic acid PMID: 20797687;24697911 False 3 100;0;0 4.26 True ENSG00000100997 ENSG00000100997 HGNC:15868 ACTG1 gene ACTG1 Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hearing loss;Deafness, autosomal dominant 20/26, 604717;Baraitser-Winter syndrome 2, 614583;#604717;Hearing loss, sensorineural, bilateral, progressive;Hearing loss begins with loss of high frequencies;Audiogram shows sloping configuration;Deafness, profound, by 6th decade;Trigonocephaly/metopic ridge;Prominent/full/wide cheeks;Pointed chin;Retrognathia (in some patients);Abnormally shaped ears;Deafness (in some patients);Microphthalmia (in some patients);Arched eyebrows;Long palpebral fissures;Eye coloboma (in some patients);Hypertelorism/telecanthus;Ptosis;Short, upturned nose;Large, squared nose tip;Prominent nasal root on profile;Thick/prominent/everted lower lipCleft lip/palate (in some patients);Long philtrum;Thin upper lip;Large mouth;Short neck (in some patients);Pterygium colli (in some patients);Heart defect (in some patients);Kyphosis/scoliosis (in some patients);Pectus (in some patients);Enlarged ventricles (in some patients);Intellectual disabilityPachygyria/lissencephalyAgenesis of corpus callosum (in some patients);Epilepsy PMID:10524632;11474115;12388543;12519370;13680526;14684684;16773128;16950128;19477959;20847274;22366783;2837653;3351890;3472224;3737401;5654493;6865942;8941379 False 3 100;0;0 4.26 True ENSG00000184009 ENSG00000184009 HGNC:144 ADGRV1 gene ADGRV1 Emory Genetics Laboratory;Expert;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal hearing loss;Febrile seizures, familial, 4, 604352;Syndromic and Non Syndromic Hearing Loss; Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472; Usher syndrome, type 2C, 605472 10234513;10976914;11545713;11606593;12095917;12402266;14740321;15820310;18854872;19357116;19357117;20440071;22147658;9598305;9734811 False 3 100;0;0 4.26 True ENSG00000164199 ENSG00000164199 HGNC:17416 AIFM1 gene AIFM1 Expert list;Expert Review Green Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Deafness, X-linked 5, OMIM:300614 25986071 False 3 100;0;0 4.26 False ENSG00000156709 ENSG00000156709 HGNC:8768 ALMS1 gene ALMS1 Expert;Expert Review Green Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal #203800: Alstrom syndrome PMID:10598815;11941369;11941370;16000322;17206865;17594715;17850632;21877133;21901789;9063741;9205841;9409865;9921899 False 3 100;0;0 4.26 True ENSG00000116127 ENSG00000116127 HGNC:428 AP1S1 gene AP1S1 Expert Review Green;Literature;NHS GMS Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Non-syndromic congenital intestinal failure;MEDNIK syndrome, OMIM:609313 32306098;15668823;19057675;23423674;30244301 False 3 100;0;0 4.26 False ENSG00000106367 ENSG00000106367 HGNC:559 ATP6V1B1 gene ATP6V1B1 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal hearing loss; Distal Renal Tubular Acidosis with Progressive Nerve Deafness; Renal tubular acidosis with deafness, 267300 PMID:12566520;1373501;18798332;22509993;2527371;2869030;7945239;9916796 False 3 100;0;0 4.26 True ENSG00000116039 ENSG00000116039 HGNC:853 ATP6V1B2 gene ATP6V1B2 Expert Review;Expert Review Green;Literature Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Deafness, congenital, with onychodystrophy, autosomal dominant, OMIM:124480;Zimmermann-Laband syndrome 2, OMIM:616455 32873933;28396750;24913193 False 3 100;0;0 4.26 False ENSG00000147416 ENSG00000147416 HGNC:854 BCS1L gene BCS1L Expert;Expert Review Green Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal #124000:Mitochondrial complex III deficiency, nuclear type 1;#256000:Leigh syndrome;#262000:Bjornstad syndrome;#603358:GRACILE syndrome PMID:10508156;11528392;12215968;12910490;17314340;17403714;19162478;19508421;24172246;7577396;9545407;9792866;9878253 False 3 100;0;0 4.26 True ENSG00000074582 ENSG00000074582 HGNC:1020 BSND gene BSND Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal hearing loss;Bartter syndrome, type 4a, 602522;#602522:Sensorineural deafness with mild renal dysfunction;Barttersyndrome,type4a, 602522 PMID:11687798;11734858;12574213;16849430;19646679;9463315 False 3 100;0;0 4.26 True ENSG00000162399 ENSG00000162399 HGNC:16512 CABP2 gene CABP2 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 93, 614899 PMID:10625670;11108966;22981119 False 3 100;0;0 4.26 True ENSG00000167791 ENSG00000167791 HGNC:1385 CCDC50 gene CCDC50 Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Deafness, autosomal dominant 44, 607453;hearing loss;#607453:?Deafness, autosomal dominant 44 2483295;14527723;16803894;17503326;24875298;27911912;27068579;17503326 False 3 50;0;50 4.26 True ENSG00000152492 ENSG00000152492 HGNC:18111 CDC14A gene CDC14A Expert list;Expert Review Green Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 32, with or without immotile sperm, OMIM:608653 29293958;27259055 False 3 100;0;0 4.26 False ENSG00000079335 ENSG00000079335 HGNC:1718 CDH23 gene CDH23 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal hearing loss;Usher syndrome, type 1D, 601067;Deafness, autosomal recessive 12, 601386;Usher syndrome, type 1D/F digenic, 601067;Nonsyndromic Hearing Loss, Recessive PMID: 11090341;11138008;11138009;11857743;12075507;12407180;12485990;12522556;12910270;15358736;15537665;15829536;17805295;17850630;19270079;20399731;20639393;21228398;21940737;23135401;2706105 False 3 100;0;0 4.26 True ENSG00000107736 ENSG00000107736 HGNC:13733 CEACAM16 gene CEACAM16 Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal #614614:?Deafness, autosomal dominant 4B;Sensorineural hearing loss, progressive bilateral postlingual 16139472;21368133;7655461;21368133;25589040;26648831 False 3 33;0;67 4.26 True ENSG00000213892 ENSG00000213892 HGNC:31948 CEP250 gene CEP250 Expert Review Green;Literature Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy and hearing loss 2, OMIM:618358, MONDO:0020780 24780881;29718797;30459346 False 3 100;0;0 4.26 False ENSG00000126001 ENSG00000126001 HGNC:1859 CEP78 gene CEP78 Expert Review Green;Other Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Cone-Rod Dystrophy and Hearing Loss;CRDHL;OMIM: 617236 28005958;27588451;27588452;27627988 False 3 0;0;0 4.26 False ENSG00000148019 ENSG00000148019 HGNC:25740 CHD7 gene CHD7 Emory Genetics Laboratory;Expert;Expert Review Green Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hearing loss;#214800:CHARGE syndrome;#612370:Hypogonadotropic hypogonadism 5 with or without anosmia PMID:10718198;15300250;16155193;16169932;16207732;16400610;16763960;17334995;17436250;17661815;17937444;18074359;18472328;18834967;18978652;19279158;20016488;20130577;20453063;20591827;21532573;21554267;23883829;24728844;25119037 False 3 100;0;0 4.26 True ENSG00000171316 ENSG00000171316 HGNC:20626 CIB2 gene CIB2 Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal #609439:Deafness, autosomal recessive 48;hearing loss;#614869:Usher syndrome, type IJ PMID:18505454;23023331;9931475 False 3 100;0;0 4.26 True ENSG00000136425 ENSG00000136425 HGNC:24579 CISD2 gene CISD2 Emory Genetics Laboratory;Expert Review Green Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal hearing loss;Wolfram syndrome 2, OMIM:604928 10739754;17846994;25056293;25371195 False 3 50;50;0 4.26 False ENSG00000145354 ENSG00000145354 HGNC:24212 CLDN14 gene CLDN14 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal hearing loss;Nonsyndromic Hearing Loss, Recessive;#614035:Deafness, autosomal recessive 29 PMID:10830953;11163249;12913076;15880785;19561606;22246673 False 3 100;0;0 4.26 True ENSG00000159261 ENSG00000159261 HGNC:2035 CLDN9 gene CLDN9 Expert;Expert Review Green;NHS GMS Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 116, OMIM:619093;deafness, autosomal recessive 116, MONDO:0033670 31175426;19696885;34265170 False 3 60;0;40 4.26 False ENSG00000213937 ENSG00000213937 HGNC:2051 CLPP gene CLPP Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal #614129:Perrault syndrome 3 PMID:10347188;11923310;16115876;17690910;21660509;22037954;23541340;23851121;8543061 False 3 100;0;0 4.26 True ENSG00000125656 ENSG00000125656 HGNC:2084 CLRN1 gene CLRN1 Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal hearing loss;#276902:Usher syndrome, type 3A;Retinitis pigmentosa 61, 614180 PMID:11524702;12080385;12145752;14569126;15521980;19414487;20717163;21310491;7711740;8975700;9719374 False 3 100;0;0 4.26 True ENSG00000163646 ENSG00000163646 HGNC:12605 COCH gene COCH Emory Genetics Laboratory;Expert;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal recessive 110 OMIM:618094;Deafness, autosomal dominant 9 OMIM:601369;deafness, autosomal recessive 110 MONDO:0054860;autosomal dominant nonsyndromic deafness 9 MONDO:0011058 10400989;11332404;11709536;12928864;14512963;16078052;16261627;16481359;18312449;19161137;20097680;22139968;23684986;7829101;8817345;9441737;9806553;9931344;16151338;28116169;28099493;9806553;17561763;21046548;26256111;22931125;22610276;18312449;28733840;18697796;29449721;32939038;32562050;31126177 False 3 100;0;0 4.26 True ENSG00000100473 ENSG00000100473 HGNC:2180 COL11A1 gene COL11A1 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Deafness, autosomal dominant 37, OMIM:618533;Stickler syndrome, type II, OMIM:604841 30245514;17236192 False 3 100;0;0 4.26 False ENSG00000060718 ENSG00000060718 HGNC:2186 COL11A2 gene COL11A2 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal hearing loss;#184840:Stickler syndrome, type III;#215150:Otospondylomegaepiphyseal dysplasia;#277610:Weissenbacher-Zweymuller syndrome;#601868:Deafness, autosomal dominant 13;#609706:Deafness, autosomal recessive 53;#614524: Fibrochondrogenesis 2;Nonsyndromic Hearing Loss, Dominant PMID: 10581026;10677296;11289713;14234962;15372529;15558753;16033917;16609882;16637051;1906426;22246659;2321911;25633957;2591970;2760050;7559422;7833911;7859284;8431643;8486632;8838804;9188673;9506662;9805126 False 3 100;0;0 4.26 True ENSG00000204248 ENSG00000204248 HGNC:2187 COL2A1 gene COL2A1 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Stickler syndrome, type I, OMIM:108300 23110709;27408751;20179744 False 3 100;0;0 4.26 False ENSG00000139219 ENSG00000139219 HGNC:2200 COL4A5 gene COL4A5 Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Non-syndromic hearing loss 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) #301050:Alport syndrome;diffuse leiomyomatosis with Alport syndrome = contiguous gene syndrome with COL4A6;hearing loss PMID: 12436246;12796257;1330889;1352287;1363780;1376965;1453602;1577459;1598909;16133187;1635357;1672282;1689491;1733850;1783380;2004755;21729787;2349482;25575550;6650503;7706490;7987301;8120014;8132760;8171024;8281136;8356449;8596916;8651292;8662866;8825605;8940267;9150741;9195222 False 3 100;0;0 4.26 True ENSG00000188153 ENSG00000188153 HGNC:2207 COL9A1 gene COL9A1 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Stickler syndrome, type IV, OMIM:614134;Hearing loss 16909383;21421862;23967202;31315069 False 3 67;0;33 4.26 False ENSG00000112280 ENSG00000112280 HGNC:2217 COL9A2 gene COL9A2 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Stickler syndrome, type V, OMIM:614284 21671392;31090205 False 3 100;0;0 4.26 False ENSG00000049089 ENSG00000049089 HGNC:2218 CRYM gene CRYM Emory Genetics Laboratory;Expert;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Deafness, autosomal dominant 40, OMIM:616357;autosomal dominant nonsyndromic deafness 40, MONDO:0014603 32742378;12471561;16740909;18448257;24676347;26915689 False 3 40;20;40 4.26 True ENSG00000103316 ENSG00000103316 HGNC:2418 DFNA5 gene DFNA5 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nonsyndromic Hearing Loss, Mixed;#600994:Deafness, autosomal dominant 5;hearing loss PMID: 12461698;14559215;14676472;15173223;16897187;17427029;17868390;19911014;21522185;8589696;9450185;9523727;9771715 False 3 100;0;0 4.26 True ENSG00000105928 ENSG00000105928 HGNC:2810 DFNB59 gene DFNB59 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal hearing loss;Deafness, autosomal recessive 59, 610220;Nonsyndromic Hearing Loss, Recessive PMID: 16804542;17301963;17329413;17373699;17718865 False 3 100;0;0 4.26 True ENSG00000204311 ENSG00000204311 HGNC:29502 DIAPH1 gene DIAPH1 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nonsyndromic Hearing Loss, Mixed;Deafness, autosomal dominant 1, 124900;hearing loss PMID:12021256;12034774;15864301;17182868;24781755;PMID: 1350680 and 9360932 - original studies mapping the cause of autosomal dominant nonsyndromic deafness in the Cost Rican M Kindred to a region on chromosome 5q31 named the DFNA1 gene. All 78 affected members were heterozygous for a mutation found within the gene that caused abberant splicing;PMID: 24781755 - a family study identify a homozygous nonsense alteration as the cause of microcephaly (MCP), severe visual impairment, intellectual disability, and short stature;PMID: 26463574 - describes a case of an affected boy from United Arab Emirates, and a seperate family with 3 affected siblings of Omani ancestry, and identify likely causative homozygous variants in this gene in the individuals affected with microcephaly, blindness and early onset seizures. False 3 50;50;0 4.26 True ENSG00000131504 ENSG00000131504 HGNC:2876 DMXL2 gene DMXL2 Expert Review Green;Other Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Deafness, autosomal dominant 71, OMIM:617605 27657680;22875945;25248098;31688942 False 3 67;33;0 4.26 False ENSG00000104093 ENSG00000104093 HGNC:2938 DNMT1 gene DNMT1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hearing loss;Dementia, Deafness, and Sensory Neuropathy;Neuropathy, hereditary sensory, type IE, 614116;Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 10325416;10433969;10449766;10545955;10615135;10721735;10753866;10801130;10888872;10888886;11005794;11074872;11290321;11728338;11884600;11932749;11940649;12145218;12473678;12496760;12702876;12915469;14615517;14684836;14749379;14978102;15215866;15311210;1559980;15657147;15684088;15870198;1594447;1606615;16357870;16998846;17312023;17322882;17359920;17470536;17673620;17960246;17994007;18194272;19098913;19246518;19433415;1968655;20081831;2014266;21163962;21532572;22323818;22328086;23365052;24013172;24107992;3210246;7898717;8747854;8917520;8940105;9302295;9333948;9449671;31984424 False 3 100;0;0 4.26 True ENSG00000130816 ENSG00000130816 HGNC:2976 DSPP gene DSPP Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hearing loss;Dentinogenesis imperfecta, Shields type II, 125490;Deafness, autosomal dominant 36, with dentinogenesis, 605594;Dentinogenesis imperfecta, Shields type III, 125500;Dentin dysplasia, type II, 125420;Dentin dysplasia, type II,1254203 PMID:10706475;11116156;11175770;11175779;11175790;12354781;12721295;14758537;15592686;15954904;17210923;18456718;22392858;22582013;2433419;2462619;7573043;8995371;9533027 False 3 100;0;0 4.26 True ENSG00000152591 ENSG00000152591 HGNC:3054 EDN3 gene EDN3 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Waardenburg syndrome, type 4B, 613265;Central hypoventilation syndrome, congenital, 209880;{Hirschsprung disease, susceptibility to}, 613712 PMID: 10231870;10438732;10884419;11303518;18401410;1889823;19764030;20009762;2018043;20583152;22997338;2509452;2649896;8000144;8001160;8630502;8630503;8696331;9359047 False 3 100;0;0 4.26 True ENSG00000124205 ENSG00000124205 HGNC:3178 EDNRB gene EDNRB Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal #277580:Waardenburg syndrome, type 4A;#600155:{Hirschsprung disease, susceptibility to, 2};#600501:ABCD syndrome PMID:10090908;10528251;10591209;10749572;10770212;11274080;11309363;11773966;11891690;12355085;12847519;12919946;12920301;14718401;15170213;15294878;1648908;16682595;1710450;18157142;1848367;20009762;2175394;2558568;5917257;7778600;8001158;8001159;8429023;8570650;8589685;8634719;8810293;8852653;8852658;8852660;9284755;9359036;9371807;9530628;9556633;9580670;9585428;9739043;9760196 False 3 100;0;0 4.26 True ENSG00000136160 ENSG00000136160 HGNC:3180 EPS8 gene EPS8 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal ?Deafness, autosomal recessive 102, 615974;Deafness, prelingual, profound (affects all frequencies) PMID: 10499589;11099046;11185075;12620401;14565974;15558031;17018287;21236676;21526224;24741995;8084614;8404850 False 3 100;0;0 4.26 True ENSG00000151491 ENSG00000151491 HGNC:3420 EPS8L2 gene EPS8L2 Expert list;Expert Review Green Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 106, OMIM:617637 26282398;2391890;28281779 False 3 100;0;0 4.26 False ENSG00000177106 ENSG00000177106 HGNC:21296 ESPN gene ESPN Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal recessive 36, 609006Deafness, neurosensory, without vestibular involvement, autosomal dominant;Deafness,autosomalrecessive36,609006Deafness,neurosensory,withoutvestibularinvolvement,autosomaldominant PMID: 10588661;10975527;10980526;15286153;15930085;18973245;8799813;9763424 False 3 100;0;0 4.26 False ENSG00000187017 ENSG00000187017 HGNC:13281 ESRRB gene ESRRB Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Nonsyndromic Hearing Loss, Recessive;Deafness, autosomal recessive 35, 608565;hearing loss PMID:12529709;18179891;22902501;3267207;9285590;9344655 False 3 100;0;0 4.26 True ENSG00000119715 ENSG00000119715 HGNC:3473 EYA1 gene EYA1 Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hearing loss;#113650:Branchiootorenal syndrome 1, with or without cataracts;Anterior segment anomalies with or without cataract, 113650;Branchiootic syndrome 1, 602588;Otofaciocervical syndrome, 166780 PMID:10072433;10471511;10655545;10991693;11409867;11703923;11734542;12404110;14517553;14628042;14628052;14628053;15146463;15226428;15479196;15493068;16441263;16691597;16990542;18177466;18220287;19206155;19234442;21280147;2773990;5365063;9006082;9020840;9342347;9359046;9361030;9603436;23840632 False 3 100;0;0 4.26 True ENSG00000104313 ENSG00000104313 HGNC:3519 EYA4 gene EYA4 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hearing loss;Nonsyndromic Hearing Loss, Dominant;Deafness, autosomal dominant 10, 601316;Cardiomyopathy, dilated, 1J, 605362 PMID: 10769282;11159937;15735644;17567890;17568404;18219393;19561593;9887327 False 3 100;0;0 4.26 True ENSG00000112319 ENSG00000112319 HGNC:3522 FDXR gene FDXR Expert list;Expert Review Green Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Auditory neuropathy and optic atrophy, OMIM:617717 28965846 False 3 100;0;0 4.26 False ENSG00000161513 ENSG00000161513 HGNC:3642 FGF3 gene FGF3 Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal hearing loss;#610706: Deafness, congenital with inner ear agenesis, microtia, and microdontia PMID:15809038;16329133;17236138;17656375;17906623;18435799;1846319;18583612;18701883;1922362;21108385;21480479;2470007;3023852;3574458 False 3 100;0;0 4.26 True ENSG00000186895 ENSG00000186895 HGNC:3681 FOXI1 gene FOXI1 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Nonsyndromic Hearing Loss, Mixed;#600791:Enlarged vestibular aqueduct;hearing loss PMID:12642503;15173882;16932748;17503324;7957066;8825632;9843211;29242249 False 3 67;0;33 4.26 True ENSG00000168269 ENSG00000168269 HGNC:3815 GATA3 gene GATA3 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted #146255:Hypoparathyroidism, sensorineural deafness, and renal dysplasia PMID: 10835639;10935639;11021798;11389161;12097365;12923059;14670303;14985365;15207274;15475959;15662016;16912130;17075044;17129787;17210674;17309062;1871134;19248180;19253381;2050118;21834031;7550312;7592673;8088776;8211130;9160750;9261181;9780145;9949310 False 3 100;0;0 4.26 True ENSG00000107485 ENSG00000107485 HGNC:4172 GGPS1 gene GGPS1 Expert Review Green;Literature;NHS GMS Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, OMIM:619518 32403198 False 3 100;0;0 4.26 False ENSG00000152904 ENSG00000152904 HGNC:4249 GIPC3 gene GIPC3 Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal hearing loss;#601869: Deafness, autosomal recessive 15 PMID:11836571;17690910;21326233;21660509;9286457 False 3 100;0;0 4.26 True ENSG00000179855 ENSG00000179855 HGNC:18183 GJB2 gene GJB2 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal hearing loss;Deafness, autosomal recessive 1A, 220290;Deafness, autosomal dominant 3A, 601544;Vohwinkel syndrome, 124500;Keratoderma, palmoplantar, with deafness, 148350;Keratitis-ichthyosis-deafness syndrome, 148210;Hystrix-like ichthyosis with deafness, 602540;Bart-Pumphrey syndrome, 149200;Nonsyndromic Hearing Loss, Dominant;Hearing Loss or deafness PMID:10218527;10369869;10376574;10422812;10544226;10607953;10633133;10633135;10713883;10757647;10782932;10807696;10830906;10874298;10903123;10980526;10981905;10982180;10982182;11134236;11179004;11298683;11313751;11313763;11354642;11483639;11556849;11746015;11807148;11912510;11935342;11977173;12072059;12080392;12081719;12107817;12111646;12121355;12121617;12172392;12172394;12176036;12189487;12189493;12239718;12372058;12384501;12384781;12457154;12484567;12522556;12548749;12560944;12668604;12684873;12700168;12752120;12786758;12786762;12833397;12865758;12920081;1324944;1370487;14070830;14505035;14694360;14700667;14735592;14985372;14986832;15150777;15151513;15235031;15241677;15253766;15365987;15482471;15592461;15633193;15666300;15700112;15952212;15996214;16059934;16088916;16222667;16380907;16628254;16650079;16773579;16840571;16868655;17036313;17041943;17256794;17330861;17426645;17505205;17660464;17713529;17935238;17993581;1849321;18843290;18925674;18941476;18985073;19050930;19340074;19375528;1964417;20236118;20412116;20442751;20815033;21776002;22031297;22981120;25262649;2706105;2956987;8789457;8978770;9139825;9285800;9326398;9328482;9336442;9358053;9422505;9471561;9482292;9482297;9529365;9620796;9716127;9819448;9856479;31160754 False 3 67;33;0 4.26 True ENSG00000165474 ENSG00000165474 HGNC:4284 GJB3 gene GJB3 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders 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 3 33;33;33 4.26 True ENSG00000188910 ENSG00000188910 HGNC:4285 GPSM2 gene GPSM2 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Nonsyndromic Hearing Loss, Recessive;Chudley-McCullough syndrome, 604213;also causes arachnoid cysts and MRI changes - clinical phenotpye maybe mild neurological symptoms PMID:11832491;15623799;16357871;20602914;21331036;21348867;22578326;8973305 False 3 100;0;0 4.26 True ENSG00000121957 ENSG00000121957 HGNC:29501 GREB1L gene GREB1L Expert Review Green;Literature;NHS GMS Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 80 OMIM:619274;deafness, autosomal dominant 80, MONDO:0030998 29955957;32585897;29100090 False 3 100;0;0 4.26 False ENSG00000141449 ENSG00000141449 HGNC:31042 GRHL2 gene GRHL2 Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal dominant 28, OMIM:608641;Ectodermal dysplasia/short stature syndrome, OMIM:616029 PMID:12393799;20938050;21610158;23813623;25152456 False 3 100;0;0 4.26 True ENSG00000083307 ENSG00000083307 HGNC:2799 GRXCR1 gene GRXCR1 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Nonsyndromic Hearing Loss, Recessive;Deafness, autosomal recessive 25, 613285;hearing loss PMID:15347914;20137774;20137778 False 3 100;0;0 4.26 True ENSG00000215203 ENSG00000215203 HGNC:31673 HAAO gene HAAO Expert Review Green;Literature Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Multiple congenital malformations; VACTERL-like phenotype 27604308; 17334708; 28792876 False 3 0;0;0 4.26 False ENSG00000162882 ENSG00000162882 HGNC:4796 HARS2 gene HARS2 Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 2, OMIM:614926 12056811;15779907;21464306;517579;7755634;27650058;34406847;34338890 False 3 60;40;0 4.26 True ENSG00000112855 ENSG00000112855 HGNC:4817 HOXA2 gene HOXA2 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Microtia, Hearing Impairment, and Cleft Palate;Microtia, Hearing Impairment, and Cleft Palate;#612290:?Microtia, hearing impairment, and cleft palate (AR) PMID:10230789;1358459;16902088;18394579;23775976;9367425 False 3 100;0;0 4.26 True ENSG00000105996 ENSG00000105996 HGNC:5103 HSD17B4 gene HSD17B4 Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal hearing loss;D-bifunctional protein deficiency, 261515;Perrault syndrome 1, 233400 PMID:10199776;10400999;10748062;11743515;11992265;15216544;16385454;180535;20673864;23181892;24553428;2868085;2882519;2921319;4061497;7487879;8279468;8621399;8902629;8938456;9089413;9133619;9197465;9345094;9482850;9880674;9915948 False 3 100;0;0 4.26 True ENSG00000133835 ENSG00000133835 HGNC:5213 ILDR1 gene ILDR1 Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal hearing loss;Deafness, autosomal recessive 42, 609646 PMID:15381095;15641023;21255762;24990150 False 3 100;0;0 4.26 True ENSG00000145103 ENSG00000145103 HGNC:28741 KARS gene KARS Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, recessive intermediate, B, 613641;Deafness, autosomal recessive 89, 613916 PMID:10952987;11331948;15851690;20920668;21181198;23768514;25035493;8514867;8812440 False 3 100;0;0 4.26 True ENSG00000065427 ENSG00000065427 HGNC:6215 KCNE1 gene KCNE1 Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Jervell and Lange-Nielsen syndrome 2, OMIM:612347 PMID:10400998;10973849;11438691;11799244;12670425;14760488;15051636;15207237;15840476;16823764;16922724;2730656;7622063;7828904;8432548;8899564;8900282;8900283;9230439;9354783;9354802;9445165;9693036;9790991 False 3 100;0;0 4.26 True ENSG00000180509 ENSG00000180509 HGNC:6240 KCNJ10 gene KCNJ10 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal #600791:Enlarged vestibular aqueduct, digenic;#612780:SESAME syndrome;Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome;Nonsyndromic Hearing Loss, Mixed PMID:10856114;11466414;12618319;17942730;19289823;19420365;19426954;20651251;20807765;21849804;22328087;7580148;7608203;9367690 False 3 100;0;0 4.26 True ENSG00000177807 ENSG00000177807 HGNC:6256 KCNJ16 gene KCNJ16 Expert Review Green;Literature;NHS GMS Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Hypokalemic tubulopathy and deafness, OMIM:619406 33811157;33840812 False 3 50;50;0 4.26 False ENSG00000153822 ENSG00000153822 HGNC:6262 KCNQ1 gene KCNQ1 Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal #220400: Jervell and Lange-Nielsen syndrome [Congenital sensorineural hearing loss, Prolonged QT interval on EKG, SyncopeTorsades de pointes, Sudden cardiac death, Caused by mutation in the potassium voltage-gated channel, KQT-like subfamily, member 1 gene (KCNQ1), Caused by mutation in the potassium voltage-gated channel, Isk-related subfamily, member 1 gene (KCNE1)] PMID:10024302;10077519;10086971;10220144;10220444;10393948;10477533;10482963;10511610;10654932;10973849;11106355;11140949;11216980;11226272;11528397;11684219;11799244;11997281;12205113;12410230;12522251;12554682;12689588;12702160;14756674;15051636;15159330;15207237;15358555;15385447;15498462;15516931;15516932;15840476;16314573;16414944;16922724;16990515;17192539;17360457;18452873;18580685;19632626;19767733;20660394;23350853;23851063;24096004;8487283;8528244;8872472;8900282;8900283;9020829;9020845;9020846;9024139;9108097;9164812;9164815;9323054;9386136;9570196;9641694;9654228;9693036;9702906;9753711;9781056;9927398;9950666 False 3 100;0;0 4.26 True ENSG00000053918 ENSG00000053918 HGNC:6294 KCNQ4 gene KCNQ4 Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Deafness, autosomal dominant 2A, OMIM:600101 26036578;16437162;10025409;10080176;10369879;10571947;10760249;10760300;10925378;11450843;12112653;12670425;16596322;18030493;20966080;8035838;9126484 False 3 100;0;0 4.26 True ENSG00000117013 ENSG00000117013 HGNC:6298 KIT gene KIT Expert;Expert Review Green;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Piebaldism and congenital sensorineural hearing loss PMID: 23399981;15099345;9450866;10362788;10589513;10620616;10655061;10716931;11073817;11074500;11174389;11287975;11380399;11493470;11505412;11870247;12140361;12420135;12754375;12773427;1279971;1370874;1376329;1377810;1384325;15824741;16061643;16724059;1688471;1693331;1711207;1717985;1720553;17420286;18239612;1826051;19643989;20927104;2448137;2457811;2458842;3049687;3360448;7479840;7513208;7530333;7691885;8579844;8589724;8875890;9029028;9438854;9450866;9657776;9662380;9697690;9699740;9724328;9778516;9827716;9916918;9990072 False 3 100;0;0 4.26 True ENSG00000157404 ENSG00000157404 HGNC:6342 LARS2 gene LARS2 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 4, OMIM:615300 PMID:10647888;12447374;15779907;20194621;23541342;9408748 False 3 100;0;0 4.26 True ENSG00000011376 ENSG00000011376 HGNC:17095 LHFPL5 gene LHFPL5 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Nonsyndromic Hearing Loss, Recessive;Deafness, autosomal recessive 67, 610265 PMID:15905332;16459341;16752389 False 3 100;0;0 4.26 True ENSG00000197753 ENSG00000197753 HGNC:21253 LMX1A gene LMX1A Expert;Expert Review Green;NHS GMS Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal dominant 7 OMIM:601412;autosomal dominant nonsyndromic deafness 7 MONDO:0011074 29754270;29971487;32840933;19540218;18985389;36519758 False 3 67;0;33 4.26 False ENSG00000162761 ENSG00000162761 HGNC:6653 LOXHD1 gene LOXHD1 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 77, OMIM:613079 16936105;19732867;21465660;22341973;33753533 False 3 100;0;0 4.26 True ENSG00000167210 ENSG00000167210 HGNC:26521 LRTOMT gene LRTOMT Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Nonsyndromic Hearing Loss, Recessive;Deafness, autosomal recessive 63, 611451;hearing loss PMID:17066295;17166180;17211611;18794526;18953341 False 3 100;0;0 4.26 True ENSG00000184154 ENSG00000184154 HGNC:25033 MARVELD2 gene MARVELD2 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Nonsyndromic Hearing Loss, Recessive;Deafness, autosomal recessive 49, 610153;hearing loss PMID:16365161;17186462;18084694 False 3 100;0;0 4.26 True ENSG00000152939 ENSG00000152939 HGNC:26401 MASP1 gene MASP1 Emory Genetics Laboratory;Expert Review Green Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal #257920: 3MC syndrome 1 PMID:10475605;10946292;11485744;17937425;18266249;19564340;21035106;21258343;22966085;7759119;8018603;8240317;8921412 False 3 100;0;0 4.26 True ENSG00000127241 ENSG00000127241 HGNC:6901 MITF gene MITF Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Waardenburg syndrome, type 2A, 193510;Waardenburg syndrome/ocular albinism, digenic, 103470;Tietz albinism-deafness syndrome, 103500;{Melanoma, cutaneous malignant, susceptibility to, 8}, 614456 26100139;10578055;10587587;10760582;10851256;10942418;11331755;11929831;11929848;11930005;12032083;12086670;12093801;12235125;12668617;13985019;15254223;15623583;15716956;16001072;16140982;16998588;17182868;18316599;18510545;19188590;22012259;22080950;26168401;666627;7874158;7874167;7874168;8069297;8578601;8589691;8659547;8782819;9158138;9499424;9500554;9546825;9677380;9856573;27889061 False 3 100;0;0 4.26 True ENSG00000187098 ENSG00000187098 HGNC:7105 MN1 gene MN1 Expert Review Green;Literature Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CEBALID syndrome, OMIM:618774;CEBALID syndrome, MONDO:0032908 31834374;31839203 False 3 100;0;0 4.26 False ENSG00000169184 ENSG00000169184 HGNC:7180 MPZL2 gene MPZL2 Expert list;Expert Review Green Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 111, OMIM:618145;deafness, autosomal recessive 111, MONDO:0029142 29982980;29961571;32203226 False 3 100;0;0 4.26 False ENSG00000149573 ENSG00000149573 HGNC:3496 MSRB3 gene MSRB3 Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal hearing loss;Deafness, autosomal recessive 74, 613718 PMID:14699060;15249228;19650862;21185009;24191262 False 3 100;0;0 4.26 True ENSG00000174099 ENSG00000174099 HGNC:27375 MT-RNR1 gene MT-RNR1 Emory Genetics Laboratory;Expert Review Green;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MITOCHONDRIAL hearing loss;Mitochondrial-Related Deafness;DEAFNESS, AMINOGLYCOSIDE-INDUCED;DEAFNESS;AUDITORY NEUROPATHY, INCLUDED;DEAFNESS;DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL;CARDIOMYOPATHY, RESTRICTIVE, INCLUDED PMID:10220138;10326749;10521300;10577941;10788333;10915767;11079536;11313749;11388757;12372057;12624722;12655418;12920080;12939650;12955586;14681830;14699607;14755216;15286157;15555598;15637703;15708009;16152638;1634105;16375862;16380089;16458854;16528519;16631122;16782057;16826519;17341440;18261986;18983818;7550368;7689389;8817331;9039999;9391883;9490575;9632174;9779807;9887373;9915970 False 3 100;0;0 4.26 True ENSG00000211459 ENSG00000211459 HGNC:7470 MT-TS1 gene MT-TS1 Emory Genetics Laboratory;Expert Review Green Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MITOCHONDRIAL MERRF/MELAS OVERLAP SYNDROME;MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY;KERATODERMA, PALMOPLANTAR, WITH DEAFNESS;DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL;DEAFNESS, SENSORINEURAL, WITH NEUROLOGIC FEATURES, INCLUDED;EXERCISE INTOLERANCE, MUSCLE PAIN, AND LACTIC ACIDEMIA PMID:10094190;10340654;10371545;10545608;10978361;11069477;11175301;11378827;12461693;127819;14605505;17659260;20153673;6213205;7219534;7581383;7669057;7987332;8019558;8572257;9450881;9742104;9832034;29299381 False 3 100;0;0 4.26 True ENSG00000210151 ENSG00000210151 HGNC:7497 MYH14 gene MYH14 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nonsyndromic Hearing Loss, Dominant;Deafness, autosomal dominant 4A, 600652;?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 PMID:12909352;14594953;15015131;15845534;16222661;21480433 False 3 100;0;0 4.26 True ENSG00000105357 ENSG00000105357 HGNC:23212 MYH9 gene MYH9 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nonsyndromic Hearing Loss, Dominant;May-Hegglin anomaly, 155100;Fechtner syndrome, 153640;Sebastian syndrome, 605249;Deafness, autosomal dominant 17, 603622;Epstein syndrome, 153650;Macrothrombocytopenia and progressive sensorineural deafness, 600208 PMID:10603121;10739770;10973259;10973260;11023810;11093280;11159552;11590545;11752022;11776386;11935325;11943476;12237319;12533692;12649151;12792306;1449176;15064761;15496418;15555549;15613099;15667538;16162639;16630581;16969870;17146397;18059020;1860190;18794854;18794856;1912569;19450438;1967836;20485438;20944748;21501827;24436421;5011389;8280620;9390828 False 3 100;0;0 4.26 True ENSG00000100345 ENSG00000100345 HGNC:7579 MYO15A gene MYO15A Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 3 OMIM:600316;autosomal recessive nonsyndromic deafness 3 MONDO:0010860 33078831;10552926;10915760;11735029;12966030;15590698;15654330;17546645;17851452;17853461;21236676;7704031;9603735;9603736 False 3 100;0;0 4.26 True ENSG00000091536 ENSG00000091536 HGNC:7594 MYO3A gene MYO3A Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 30 OMIM:607101;autosomal recessive nonsyndromic deafness 30 MONDO:0011774 10936054;12032315;21165622;33078831;26841241;29880844 False 3 100;0;0 4.26 True ENSG00000095777 ENSG00000095777 HGNC:7601 MYO6 gene MYO6 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Nonsyndromic Hearing Loss, Dominant;Deafness, autosomal dominant 22, 606346;Nonsyndromic Hearing Loss, Recessive;#606346:Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy;#607821:Deafness, autosomal recessive 37 PMID:10519557;11167014;11468689;11707568;12134162;12687499;12966030;15006355;15060111;15123708;15721263;15944696;16908842;16949370;18212818;18348273;19417007;19744958;7493015;7929586;8884266;9259267 False 3 100;0;0 4.26 True ENSG00000196586 ENSG00000196586 HGNC:7605 MYO7A gene MYO7A Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal dominant 11, OMIM:601317;Deafness, autosomal recessive 2, OMIM:600060;Usher syndrome, type 1B, OMIM:276900 PMID:10094549;10364543;10414956;10958658;11391666;11468276;12080385;12485990;12743369;12966030;15221449;15660226;18181211;20132242;20639393;21150918;21311020;21901789;7870171;7870172;7951250;8622919;8842737;8884267;8900236;9002678;9070921;9171832;9171833;9286457;9354784;9382091;9620764;9718342;9843659 False 3 100;0;0 4.26 True ENSG00000137474 ENSG00000137474 HGNC:7606 OGDHL gene OGDHL Expert Review Green;Literature;NHS GMS Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Yoon-Bellen neurodevelopmental syndrome, OMIM:619701 28017472;34800363 False 3 100;0;0 4.26 False ENSG00000197444 ENSG00000197444 HGNC:25590 OPA1 gene OPA1 Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Optic atrophy 1, OMIM:165500;Optic atrophy plus syndrome, OMIM:125250 PMID:10547374;11017079;11017080;11440988;11440989;11735024;11810270;11810296;12073024;12509422;12566046;14644237;15297626;1532158;15509649;15531309;16158427;16240368;16323009;16839885;17024226;17188046;17188070;17428816;17722006;18065439;18158317;18195150;18281461;19029523;19181907;19581274;20157015;20185555;20417568;20484224;20974897;21636302;24091702;4058877;6493699;9490303;9628581;9790976;9917792 False 3 100;0;0 4.26 True ENSG00000198836 ENSG00000198836 HGNC:8140 OSBPL2 gene OSBPL2 Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted #616340: Deafness, autosomal dominant 67 [Hearing loss, sensorineural, mild to profound, Tinnitus at onset of high-frequency hearing loss, No vestibular symptoms] PMID: 10588946;11279184;11483621;11735225;25077649;25759012;9872452 False 3 100;0;0 4.26 True ENSG00000130703 ENSG00000130703 HGNC:15761 OTOA gene OTOA Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal hearing loss;#607039: Deafness, autosomal recessive 22 [Deafness, sensorineural, severe to profound affecting all frequencies] PMID:11972037;19888295;23173898 False 3 100;0;0 4.26 True ENSG00000155719 ENSG00000155719 HGNC:16378 OTOF gene OTOF Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Nonsyndromic Hearing Loss, Recessive;Deafness, autosomal recessive 9, 601071;hearing loss;Auditory neuropathy, autosomal recessive, 1, 601071 PMID:10192385;10843812;10878664;10903124;12114484;12127154;12525542;14635104;16097006;16371502;17055430;19250381;19417007;22575033;9657592 False 3 100;0;0 4.26 True ENSG00000115155 ENSG00000115155 HGNC:8515 OTOG gene OTOG Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 18B, 614945 PMID:10337628;10655058;23122587;8128966;9405633 False 3 100;0;0 4.26 True ENSG00000188162 ENSG00000188162 HGNC:8516 OTOGL gene OTOGL Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 84B, 614944 23122586 False 3 100;0;0 4.26 False ENSG00000165899 ENSG00000165899 HGNC:26901 P2RX2 gene P2RX2 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 41, 608224 PMID:10493739;10570044;10935636;12161595;16322458;18491132;23345450;23592720;24211385;7523952;7566120 False 3 100;0;0 4.26 True ENSG00000187848 ENSG00000187848 HGNC:15459 PAX2 gene PAX2 Expert;Expert Review Green Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted RENAL-COLOBOMA SYNDROME;#120330:Papillorenal syndrome;#616002:Glomerulosclerosis, focal segmental, 7 PMID: 10533062;10587573;10869107;11093271;11168927;11241473;11461952;11730657;12141441;12697057;12915483;15623552;15652857;16355216;16971658;19005469;1977574;20358591;21108633;22213154;24676634;2644560;3377002;7720589;7795640;7819127;7835879;7981748;8431641;8588587;8589702;8661132;8760285;8943028;9106533;9132492;9760197;9916932 False 3 100;0;0 4.26 True ENSG00000075891 ENSG00000075891 HGNC:8616 PAX3 gene PAX3 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal #122880:Craniofacial-deafness-hand syndrome;#148820:Waardenburg syndrome, type 3;#193500:Waardenburg syndrome, type 1;#268220:Rhabdomyosarcoma 2, alveolar PMID:20301703;10521655;10557309;10699180;10942418;11262400;11683776;12242297;12594042;12668617;12949970;1303187;1303193;1303207;1303254;1308353;1347148;1347149;14665670;1536170;1552554;15729346;15843801;1682057;17986608;1887852;2022185;2045114;20478267;21965087;2501086;2596512;2785681;3819023;5907833;6859126;7091186;7545913;7573125;7630639;7726174;7782066;7852195;7862145;7897628;7942851;8098985;8234293;8275086;8322830;8421686;8423616;8431641;8447316;8490648;8533800;8589691;8664898;8782819;8786127;8790412;8799378;9302254;9500554 False 3 100;0;0 4.26 True ENSG00000135903 ENSG00000135903 HGNC:8617 PBX1 gene PBX1 Expert Review Green;Literature;NHS GMS Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM:617641;congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MONDO:0060549 28566479;29036646;28270404 False 3 100;0;0 4.26 False ENSG00000185630 ENSG00000185630 HGNC:8632 PCDH15 gene PCDH15 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Nonsyndromic Hearing Loss, Recessive;Usher syndrome, type 1F, 602083;hearing loss;Deafness, autosomal recessive 23, 609533;Usher syndrome, type1D/F digenic, 601067 PMID:11138007;11398101;11487575;12711741;14570705;15537665;15660226;17653769;17706913;17805295;18719945;19107147;22981120;23135401 False 3 100;0;0 4.26 True ENSG00000150275 ENSG00000150275 HGNC:14674 PDZD7 gene PDZD7 Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal #605472:Usher syndrome, type IIC, GPR98/PDZD7 digenic;autosomal recessive nonsyndromic hearing loss PMID:19028668;20440071;26849169;26416264 False 3 100;0;0 4.26 True ENSG00000186862 ENSG00000186862 HGNC:26257 PLS1 gene PLS1 Expert list;Expert Review Green Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 76, OMIM:618787;deafness, autosomal dominant 76, MONDO:0032917 31397523;31432506;30872814 False 3 100;0;0 4.26 False ENSG00000120756 ENSG00000120756 HGNC:9090 PNPT1 gene PNPT1 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 13, OMIM:614932;Deafness, autosomal recessive 70, OMIM:614934 PMID:12419256;12473748;12798676;14563561;23084290;23084291;25457163 False 3 100;0;0 4.26 True ENSG00000138035 ENSG00000138035 HGNC:23166 POU3F4 gene POU3F4 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Nonsyndromic Hearing Loss, X-Linked;Deafness, X-linked 2, 304400;hearing loss;Nonsyndromic Hearing Loss, X-Linked PMID: 10464101;10587581;1783396;1922747;22139968;23076972;7581392;7839145;7911044;8589693;9109724;9298820 False 3 100;0;0 4.26 True ENSG00000196767 ENSG00000196767 HGNC:9217 POU4F3 gene POU4F3 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nonsyndromic Hearing Loss, Dominant;Deafness, autosomal dominant 15, 602459 PMID: 14585957;15254021;18228599;20434433;24260153;7623109;8637595;9256502;9506947 False 3 100;0;0 4.26 True ENSG00000091010 ENSG00000091010 HGNC:9220 PRPS1 gene PRPS1 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Nonsyndromic Hearing Loss, X-Linked;Gout, PRPS-related, 300661;hearing loss;#300661:Phosphoribosylpyrophosphate synthetase superactivity;#301835:Arts syndrome;#304500:Deafness, X-linked 1;#311070:Charcot-Marie-Tooth disease, X-linked recessive, 5 PMID:10503584;15240907;168665;171280;17701896;17701900;1962753;20021999;20380929;2155397;217337;218284;22246954;2423135;24285972;2537655;4373874;6243137;7593598;8253776;8498830;8968763 False 3 100;0;0 4.26 True ENSG00000147224 ENSG00000147224 HGNC:9462 PTPRQ gene PTPRQ Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal dominant 73, OMIM:617663;Deafness, autosomal recessive 84A, OMIM:613391 12802008;12837292;14534255;20346435;9727007;29309402;31655630;33229591 False 3 67;33;0 4.26 True ENSG00000139304 ENSG00000139304 HGNC:9679 RDX gene RDX Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Nonsyndromic Hearing Loss, Recessive;Deafness, autosomal recessive 24, 611022;hearing loss PMID:12068294;14758359;14983055;15314067;17226784;19215054;8486357 False 3 100;0;0 4.26 True ENSG00000137710 ENSG00000137710 HGNC:9944 RNF220 gene RNF220 Expert Review Green;Literature;NHS GMS;Other Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Sensorineural hearing impairment, HP:0000407 33964137;10881263 False 3 100;0;0 4.26 False ENSG00000187147 ENSG00000187147 HGNC:25552 S1PR2 gene S1PR2 Expert;Expert Review Green Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 68 610419 26805784;29776397 False 3 50;0;50 4.26 False ENSG00000267534 ENSG00000267534 HGNC:3169 SALL1 gene SALL1 Emory Genetics Laboratory;Expert Review Green Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted #107480:Townes-Brocks syndrome;Townes-Brocks branchiootorenal-like syndrome PMID:10533063;10928856;10965108;11102974;11478532;11484202;11688560;11751684;12915476;12925729;14755477;16088922;16670092;16892410;17431915;18000979;18470945;8133838;8357560;8975705;9425907;9973281 False 3 100;0;0 4.26 True ENSG00000103449 ENSG00000103449 HGNC:10524 SALL4 gene SALL4 Emory Genetics Laboratory;Expert Review Green Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "hearing loss;Duane-radial ray syndrome 607323;IVIC syndrome 147750" False 3 100;0;0 4.26 True ENSG00000101115 ENSG00000101115 HGNC:15924 SERAC1 gene SERAC1 Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739 29205472;22683713;16527507;28482397;28778788;27186703;27604308;23707711;16527507 False 3 100;0;0 4.26 False ENSG00000122335 ENSG00000122335 HGNC:21061 SERPINB6 gene SERPINB6 Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal hearing loss;Deafness, autosomal recessive 91, 613453 PMID: 25719458;15082799;20451170;PMID: 23669344 (homozygous-null mice have hearing impairmemt from 3 weeks of age, associated with progressive cellular degeneration within the cochlea);24963352;7601482;7608171;7724531;8415716;8530031;8614560 False 3 67;0;33 4.26 True ENSG00000124570 ENSG00000124570 HGNC:8950 SGPL1 gene SGPL1 Expert Review Green;Literature Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Nephrotic syndrome 14 617575" 28181337; 28165339; 28165343 False 3 100;0;0 4.26 False ENSG00000166224 ENSG00000166224 HGNC:10817 SIX1 gene SIX1 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown #605192:Deafness, autosomal dominant 23;#608389:Brachiootic syndrome 3;hearing loss;Nonsyndromic Hearing Loss, Dominant PMID:10512683;10773454;10777717;11262400;11734542;12368906;12843324;14628042;14704789;15141091;15226428;16670092;17637804;19389353;19726883;19726885;21700001;22267199;7720577;8617500;9770533 False 3 100;0;0 4.26 True ENSG00000126778 ENSG00000126778 HGNC:10887 SLC12A2 gene SLC12A2 Expert;Expert Review Green Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bilateral sensorineural hearing loss;Intellectual disability;Secretory defects 30740830;32294086;32754646;32658972 False 3 67;0;33 4.26 False ENSG00000064651 ENSG00000064651 HGNC:10911 SLC17A8 gene SLC17A8 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown hearing loss;Nonsyndromic Hearing Loss, Dominant;Deafness, autosomal dominant 25, 605583 12151341;18215623;18674745;19915548;9323205;24082139;23967202;27610647;6969326;28314816;30245029 False 3 67;0;33 4.26 True ENSG00000179520 ENSG00000179520 HGNC:20151 SLC26A4 gene SLC26A4 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Nonsyndromic Hearing Loss, Recessive;Pendred syndrome, 274600;hearing loss;Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791;enlarged vestibular aqueducts PMID:10190331;10192399;10404839;10449762;10571950;10602116;10843192;10861298;10878664;10902795;11152663;11274445;11317356;11932316;12107249;12354788;12642503;12676893;12727986;12788906;12920581;12974744;14508505;15531480;15679828;15689455;16260629;16570074;17443271;17503324;17690912;17718863;17940114;18285825;18310264;19204907;19287372;19426954;20442411;22139968;8541853;9302427;9398842;9500541;9618166;9618167;9729124;9920104 False 3 100;0;0 4.26 True ENSG00000091137 ENSG00000091137 HGNC:8818 SLC26A5 gene SLC26A5 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal #613865:?Deafness, autosomal recessive 61;Nonsyndromic Hearing Loss, Recessive;Deafness, autosomal recessive 61, 613865;hearing loss 25262649;10821263;11423665;11867734;12239568;12719379;16086836;17998209;18776049;19492055;21689600;23212912;24164807;25262649;24164807;6824437;26969326 False 3 33;67;0 4.26 True ENSG00000170615 ENSG00000170615 HGNC:9359 SLC4A11 gene SLC4A11 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal #217400:Corneal endothelial dystrophy and perceptive deafness;#217700:Corneal endothelial dystrophy 2, autosomal recessive PMID: 11302728;12556388;15525507;16767101;16825429;17220209;18024964;22072594 False 3 100;0;0 4.26 True ENSG00000088836 ENSG00000088836 HGNC:16438 SLC52A2 gene SLC52A2 Expert list;Expert Review Green Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 2, OMIM:614707, MONDO:0013867;Sensorineural hearing loss disorder, MONDO:0020678 22740598;22864630;23243084;24253200;30343981;30377535;31868069;35608644;36186484 False 3 100;0;0 4.26 False ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A3 gene SLC52A3 Expert list;Expert Review Green Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 1, OMIM:211530 20206331;20920669 False 3 0;0;0 4.26 False ENSG00000101276 ENSG00000101276 HGNC:16187 SLITRK6 gene SLITRK6 Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness and myopia, OMIM:221200;high myopia-sensorineural deafness syndrome MONDO:0009082 29551497;23946138;23543054 False 3 100;0;0 4.26 False ENSG00000184564 ENSG00000184564 HGNC:23503 SMPX gene SMPX Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss 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) Nonsyndromic Hearing Loss, X-Linked;Deafness, X-linked 4, 300066;hearing loss PMID: 10598820;11381084;11401441;21549336;21549342;22911656;7581376;8872482 False 3 100;0;0 4.26 True ENSG00000091482 ENSG00000091482 HGNC:11122 SOX10 gene SOX10 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Waardenburg syndrome, type 4C, 613266;#609136:PCWH syndrome;#611584:Waardenburg syndrome, type 2E, with or without neurologic involvement PMID:10077527;10441344;10482261;10762540;10942418;10973953;10982026;11026454;11734543;12036907;12189494;12417529;12447940;12668617;12920301;15004559;15294878;15843399;16256735;1636383;16684879;17855451;17999358;18348267;18348274;18397875;18627047;19179536;19208381;19764030;19933217;20308050;20478267;21965087;23643381;6512238;8441686;8911608;8918474;8921394;9027489;9412504;9425902;9462749;9560246;9644970;9722528;9760192 False 3 100;0;0 4.26 True ENSG00000100146 ENSG00000100146 HGNC:11190 SOX2 gene SOX2 Expert;Expert Review Green Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders 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 3 33;67;0 4.26 True ENSG00000181449 ENSG00000181449 HGNC:11195 SPATA5 gene SPATA5 Expert Review Green;Literature Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, OMIM:616577 26299366;29343804;28293831 False 3 100;0;0 4.26 False ENSG00000145375 ENSG00000145375 HGNC:18119 SPATA5L1 gene SPATA5L1 Expert Review Green;Literature;NHS GMS Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616;Deafness, autosomal recessive 119, OMIM:619615 34626583 False 3 100;0;0 4.26 False ENSG00000171763 ENSG00000171763 HGNC:28762 STRC gene STRC Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 16, 603720 PMID:11687802;12434312;12825070;17098888;18849963;22147502;26011646 False 3 100;0;0 4.26 True ENSG00000242866 ENSG00000242866 HGNC:16035 SYNE4 gene SYNE4 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 76, 615540 23348741;28958982 False 3 100;0;0 4.26 False ENSG00000181392 ENSG00000181392 HGNC:26703 TBC1D24 gene TBC1D24 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal recessive 86, 614617;Deafness, autosomal dominant 65, 616044;DOORS syndrome, 220500;deafness, onychodystrophy, osteodystrophy, and mental retardation 10574461;10741954;20727515;20797691;21087195;22211675;23343562;23526554;24291220;24387994;24729539;24729547;30139988 False 3 0;0;0 4.26 False ENSG00000162065 ENSG00000162065 HGNC:29203 TECTA gene TECTA Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal hearing loss;Nonsyndromic Hearing Loss, Dominant;Deafness, autosomal dominant 8/12, 601543;Nonsyndromic Hearing Loss, Recessive;Nonsyndromic Hearing Loss, Dominant;#603629:Deafness, autosomal recessive 21 PMID: 10196713;10987647;11087000;11333869;12162770;12746400;15995703;16718611;17431902;17661817;18575463;6971620;9079715;9503015;9590290;9718342;9949200 False 3 100;0;0 4.26 True ENSG00000109927 ENSG00000109927 HGNC:11720 TIMM8A gene TIMM8A Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females #304700:Mohr-Tranebjaerg syndrome;hearing loss;Deafness, X-linked 1, progressive PMID: 10051608;10878669;11405816;11601506;11875042;11956200;15037720;15254020;15710860;16411215;8380905;8841189 False 3 100;0;0 4.26 True ENSG00000126953 ENSG00000126953 HGNC:11817 TMC1 gene TMC1 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal hearing loss;Nonsyndromic Hearing Loss, Dominant;Deafness, autosomal recessive 7, 600974;Nonsyndromic Hearing Loss, Recessive;Nonsyndromic Hearing Loss, Dominant;#606705:Deafness, autosomal dominant 36 PMID: 11850618;11850623;17250663;17877751;18616530;19180119;22105175;24827932 False 3 100;0;0 4.26 True ENSG00000165091 ENSG00000165091 HGNC:16513 TMIE gene TMIE Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Nonsyndromic Hearing Loss, Recessive;Deafness, autosomal recessive 6, 600971;hearing loss False 3 100;0;0 4.26 True ENSG00000181585 ENSG00000181585 HGNC:30800 TMPRSS3 gene TMPRSS3 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Nonsyndromic Hearing Loss, Recessive;Deafness, autosomal recessive 8/10, 601072;hearing loss PMID: 11137999;11424922;11462234;11907649;12393794;12920079;16021470;21454591;23255163 False 3 100;0;0 4.26 True ENSG00000160183 ENSG00000160183 HGNC:11877 TPRN gene TPRN Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal hearing loss;Deafness, autosomal recessive 79, 613307 PMID:19603065;20170898;20170899 False 3 100;0;0 4.26 True ENSG00000176058 ENSG00000176058 HGNC:26894 TRIOBP gene TRIOBP Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal hearing loss;Deafness, autosomal recessive 28, 609823 PMID:11148140;11258795;16385457;16385458;20510926 False 3 100;0;0 4.26 True ENSG00000100106 ENSG00000100106 HGNC:17009 USH1C gene USH1C Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Nonsyndromic Hearing Loss, Recessive;Acadian and Samaritan variety Usher syndrome, type 1C, 276904;hearing loss;Deafness, autosomal recessive 18A, 602092 PMID: 10209257;10973233;10973247;10973248;11139240;11810303;12107438;12136232;12407180;12485990;12545275;12630964;12702164;14519688;15590703;15643617;16301216;16679490;20639393;21487335;22135276;23251578;25262649;9760205 False 3 100;0;0 4.26 True ENSG00000006611 ENSG00000006611 HGNC:12597 USH1G gene USH1G Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal hearing loss;Usher syndrome, type 1G, 606943 PMID: 12588793;12588794;1442008;15590703;15660226;17906286;21044053;21311020;24608321 False 3 100;0;0 4.26 True ENSG00000182040 ENSG00000182040 HGNC:16356 USH2A gene USH2A Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal hearing loss;Usher syndrome, type 2A, 276901;#613809:Retinitis pigmentosa 39 PMID: 10090909;10729113;10775529;10909849;11402400;12160733;12427073;12525556;14970843;15015129;15024643;15025721;16098008;16301216;16301217;17085681;17296898;17360538;17405132;18273898;18665195;18826961;19881469;20440071;20507924;22009552;25823529;9624053 False 3 100;0;0 4.26 True ENSG00000042781 ENSG00000042781 HGNC:12601 USP48 gene USP48 Expert Review Green;Literature;NHS GMS Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown non-syndromic hearing loss;nonsyndromic genetic deafness, MONDO:0019497 34059922 False 3 100;0;0 4.26 False ENSG00000090686 ENSG00000090686 HGNC:18533 WFS1 gene WFS1 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal hearing loss;Wolfram syndrome, 222300;Nonsyndromic Hearing Loss, Dominant;Deafness, autosomal dominant 6/14/38, 600965;Wolfram-like syndrome, autosomal dominant, 614296 PMID: 10521293;11161832;11181571;11260218;11295831;11317350;11709537;11709538;12073007;12107816;12181639;12754709;12913071;12955714;14527944;15056606;15151504;16151413;16195229;16648378;16806192;17492394;17603484;17947299;18544103;18688868;18806274;20069065;21538838;23531866;8595423;9771706;9817917 False 3 100;0;0 4.26 True ENSG00000109501 ENSG00000109501 HGNC:12762 WHRN gene WHRN Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal #607084:Deafness, autosomal recessive 31;#611383:Usher syndrome, type 2D;hearing loss;Nonsyndromic Hearing Loss, Recessive PMID: 10819331;11973626;12641734;12833159;15590698;15590699;15654330;15841483;16434480;16829577;17171570;17906286;22147658 False 3 100;0;0 4.26 True ENSG00000095397 ENSG00000095397 HGNC:16361 ABCC1 gene ABCC1 Expert Review Amber;Literature Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nonsyndromic hearing loss;?Deafness, autosomal dominant 77, 618915 31273342 False 2 0;100;0 4.26 False ENSG00000103222 ENSG00000103222 HGNC:51 ACOX1 gene ACOX1 Expert Review Amber Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 100;0;0 4.26 False ENSG00000161533 ENSG00000161533 HGNC:119 ATP11A gene ATP11A Expert Review Amber;Literature Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 84, OMIM:619810 35278131;36300302 False 2 100;0;0 4.26 False ENSG00000068650 ENSG00000068650 HGNC:13552 ATP2B2 gene ATP2B2 Expert;Expert Review Amber;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Deafness, autosomal recessive 12, modifier of}, OMIM:601386;Deafness, autosomal dominant 82, OMIM:619804;hearing loss, autosomal dominant 82, MONDO:0030719 30535804;17234811;33111345;33105617 False 2 50;50;0 4.26 False ENSG00000157087 ENSG00000157087 HGNC:815 CLIC5 gene CLIC5 Expert;Expert Review Amber;Radboud University Medical Center, Nijmegen Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders 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 4.26 True ENSG00000112782 ENSG00000112782 HGNC:13517 CLRN2 gene CLRN2 Expert Review Amber;Literature Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal ?Deafness, autosomal recessive 117, OMIM:619174;deafness, autosomal recessive 117, MONDO:0030905 33496845 False 2 0;100;0 4.26 False ENSG00000249581 ENSG00000249581 HGNC:33939 COG4 gene COG4 Expert Review Amber;Literature Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders 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 4.26 False Other ENSG00000103051 ENSG00000103051 HGNC:18620 COL4A6 gene COL4A6 Expert;Expert Review Amber;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders 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 4.26 True ENSG00000197565 ENSG00000197565 HGNC:2208 COL9A3 gene COL9A3 Expert;Expert Review Amber Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Stickler syndrome, MONDO:0019354 31090205;24273071 False 2 33;0;67 4.26 False ENSG00000092758 ENSG00000092758 HGNC:2219 CRLS1 gene CRLS1 Expert Review Amber;Literature Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 57, OMIM:620167 35147173 False 2 100;0;0 4.26 False ENSG00000088766 ENSG00000088766 HGNC:16148 DIABLO gene DIABLO Emory Genetics Laboratory;Expert;Expert Review Amber;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders 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 4.26 True ENSG00000184047 ENSG00000184047 HGNC:21528 DIAPH3 gene DIAPH3 Expert Review Amber;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders 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 4.26 True Other - please provide details in the comments ENSG00000139734 ENSG00000139734 HGNC:15480 DNAJC3 gene DNAJC3 Expert Review Amber;Literature Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, OMIM:616192 25466870;28940199;32738013;33486469;34654017 False 2 100;0;0 4.26 False ENSG00000102580 ENSG00000102580 HGNC:9439 ELMOD3 gene ELMOD3 Expert;Expert Review Amber;Radboud University Medical Center, Nijmegen Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Deafness, autosomal recessive 88, 615429;Deafness, autosomal dominant 240396609;31628468;30284680;29713870 False 2 0;100;0 4.26 False ENSG00000115459 ENSG00000115459 HGNC:26158 ESRP1 gene ESRP1 Expert list;Expert Review Amber Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 109, 618013 29107558 False 2 0;100;0 4.26 False ENSG00000104413 ENSG00000104413 HGNC:25966 FOXF2 gene FOXF2 Expert Review Amber;Literature Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders 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 4.26 False ENSG00000137273 ENSG00000137273 HGNC:3810 GJB6 gene GJB6 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal hearing loss;Deafness, autosomal dominant 3B, 612643;Deafness, autosomal recessive 1B, 612645;Deafness, digenic GJB2/GJB6, 220290;Ectodermal dysplasia 2, Clouston type, 129500;Nonsyndromic Hearing Loss, Dominant PMID:10471490;10570462;10610709;11017065;11807148;11874494;11896458;12419304;12490528;12668604;14571368;15150777;15213106;15638823;15994881;17041943;18324688;20858605;8663509;9139825;9799458 False 2 25;50;25 4.26 False Other - please provide details in the comments ENSG00000121742 ENSG00000121742 HGNC:4288 GPR156 gene GPR156 Expert Review Amber;Research Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal sensorineural hearing loss disorder, MONDO:0020678 36928819 False 2 100;0;0 4.26 False ENSG00000175697 ENSG00000175697 HGNC:20844 HGF gene HGF Emory Genetics Laboratory;Expert;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Nonsyndromic Hearing Loss, Mixed;Deafness, autosomal recessive 39, 608265 PMID:11343646;11564764;11565020;12574630;1386343;14556002;14691191;1531136;1535333;15545993;17467663;1824873;1831266;1837534;19188684;19576567;2142751;21988987;21988988;22763439;22763448;2528952;2531289;3276728;7624797;7854452;7854453;8804995;8898205;19576567;27610647 False 2 0;100;0 4.26 False Other - please provide details in the comments ENSG00000019991 ENSG00000019991 HGNC:4893 HOMER2 gene HOMER2 Expert list;Expert Review Amber Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Deafness, autosomal dominant 68, MIM#616707 25816005;30047143;25816005 False 2 50;50;0 4.26 False ENSG00000103942 ENSG00000103942 HGNC:17513 KDM3B gene KDM3B Expert Review Amber;Victorian Clinical Genetics Services Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diets-Jongmans syndrome, OMIM:618846;Diets-Jongmans syndrome, MONDO:0030012 30929739 False 2 50;50;0 4.26 False ENSG00000120733 ENSG00000120733 HGNC:1337 KITLG gene KITLG Expert;Expert Review Amber Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Deafness, autosomal dominant 69, unilateral or asymmetric 616697 26522471;28504826 False 2 0;100;0 4.26 False ENSG00000049130 ENSG00000049130 HGNC:6343 LETM1 gene LETM1 Expert Review;Expert Review Amber Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 36055214;33815143 False 2 100;0;0 4.26 False ENSG00000168924 ENSG00000168924 HGNC:6556 MET gene MET Expert list;Expert Review Amber Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 97 OMIM:616705;autosomal recessive nonsyndromic deafness 97 MONDO:0014739" 25941349;27717089 False 2 0;100;0 4.26 False ENSG00000105976 ENSG00000105976 HGNC:7029 MIR96 gene MIR96 Expert;Expert Review Amber;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Deafness, autosomal dominant 50 613074 19363479;22038834;30245029 False 2 0;100;0 4.26 False ENSG00000199158 ENSG00000199158 HGNC:31648 MORC2 gene MORC2 Expert Review Amber;Literature Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sensorineural hearing loss;Developmental delay;Intellectual disability;Growth retardation;Microcephaly;Craniofacial dysmorphism;Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688 32693025 False 2 100;0;0 4.26 False ENSG00000133422 ENSG00000133422 HGNC:23573 NARS2 gene NARS2 Expert list;Expert Review Amber Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders 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 4.26 False ENSG00000137513 ENSG00000137513 HGNC:26274 OXR1 gene OXR1 Expert Review Amber;Literature Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal sensorineural hearing loss disorder, MONDO:0020678 36130215 False 2 0;100;0 4.26 False ENSG00000164830 ENSG00000164830 HGNC:15822 PDSS1 gene PDSS1 Expert Review Amber;Literature Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 2, OMIM:614651 33285023;17332895 False 2 0;100;0 4.26 False ENSG00000148459 ENSG00000148459 HGNC:17759 PMP22 gene PMP22 Expert;Expert Review Amber Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders 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 4.26 False ENSG00000109099 ENSG00000109099 HGNC:9118 PPIP5K2 gene PPIP5K2 Expert list;Expert Review Amber Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 100, MIM#618422;deafness, autosomal recessive 100 MONDO:0032740 29590114 False 2 0;100;0 4.26 False ENSG00000145725 ENSG00000145725 HGNC:29035 PSMC3 gene PSMC3 Expert Review Amber;Literature Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354;neurodevelopmental disorder, MONDO:0700092;autosomal dominant nonsyndromic hearing loss, MONDO:0019587 32500975;37256937 False 2 100;0;0 4.26 False ENSG00000165916 ENSG00000165916 HGNC:9549 RIPOR2 gene RIPOR2 Expert list;Expert Review Amber;Radboud University Medical Center, Nijmegen Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Deafness, autosomal recessive 104 , OMIM:616515 17150207;24958875;9055809;9205841;24958875;27269051 False 2 50;50;0 4.26 False ENSG00000111913 ENSG00000111913 HGNC:13872 ROR1 gene ROR1 Expert list;Expert Review Amber Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 108, MIM#617654;deafness, autosomal recessive 108 MONDO:0033200 27162350 False 2 0;100;0 4.26 False ENSG00000185483 ENSG00000185483 HGNC:10256 SNAI2 gene SNAI2 Expert;Expert Review Amber;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders 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 4.26 True ENSG00000019549 ENSG00000019549 HGNC:11094 SPATC1L gene SPATC1L Expert list;Expert Review Amber Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness 30177775 False 2 0;100;0 4.26 False ENSG00000160284 ENSG00000160284 HGNC:1298 SPNS2 gene SPNS2 Expert list;Expert Review Amber Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 115, MIM#618457 30973865;25356849 False 2 0;100;0 4.26 False ENSG00000183018 ENSG00000183018 HGNC:26992 SPTBN4 gene SPTBN4 Expert Review Amber;Literature Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 28540413;29861105;31230720;32672909 False 2 0;100;0 4.26 False ENSG00000160460 ENSG00000160460 HGNC:14896 STX4 gene STX4 Expert Review Amber;Literature Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Hearing impairment, HP:0000365 36355422 False 2 0;100;0 4.26 False ENSG00000103496 ENSG00000103496 HGNC:11439 STXBP3 gene STXBP3 Expert Review;Expert Review Amber Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders 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 4.26 False ENSG00000116266 ENSG00000116266 HGNC:11446 THOC1 gene THOC1 Expert Review Amber;Literature Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nonsyndromic hearing loss;nonsyndromic genetic deafness MONDO:0019497 32776944 False 2 0;100;0 4.26 False ENSG00000079134 ENSG00000079134 HGNC:19070 TMTC2 gene TMTC2 Expert list;Expert Review Amber Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Deafness;Sensorineural hearing loss 29671961;27311106 False 2 0;100;0 4.26 False ENSG00000179104 ENSG00000179104 HGNC:25440 TNC gene TNC Expert;Expert Review Amber;Radboud University Medical Center, Nijmegen Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Deafness, autosomal dominant 56, 615629 23936043 False 2 0;100;0 4.26 False ENSG00000041982 ENSG00000041982 HGNC:5318 TOP2B gene TOP2B Expert list;Expert Review Amber Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Deafness, autosomal dominant;nonsyndromic hearing loss 31198993 False 2 0;100;0 4.26 False ENSG00000077097 ENSG00000077097 HGNC:11990 WBP2 gene WBP2 Expert list;Expert Review Amber Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 107, 617639 26881968 False 2 0;100;0 4.26 False ENSG00000132471 ENSG00000132471 HGNC:12738 YARS gene YARS Expert Review Amber;Literature Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders 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 4.26 False ENSG00000134684 ENSG00000134684 HGNC:12840 ISCA-46297-Loss region ClinGen;Expert Review Green Monogenic hearing loss Non-syndromic hearing loss Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal 31204719;19888295;20301607;25719193;30836598 False 3 100;0;0 4.26 False 16 21558792 21729102 30 60 cnv_loss 16p12.2 recurrent region (distal)(includes OTOA) Loss