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 Audiology 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 5.73 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 Audiology 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 5.73 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 Audiology 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 5.73 True ENSG00000164199 ENSG00000164199 HGNC:17416 AIFM1 gene AIFM1 Expert list;Expert Review Green Monogenic hearing loss Audiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Deafness, X-linked 5, OMIM:300614 25986071 False 3 100;0;0 5.73 False ENSG00000156709 ENSG00000156709 HGNC:8768 ALMS1 gene ALMS1 Expert;Expert Review Green Monogenic hearing loss Audiology 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 5.73 True ENSG00000116127 ENSG00000116127 HGNC:428 AP1S1 gene AP1S1 Expert Review Green;Literature;NHS GMS Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Non-syndromic congenital intestinal failure;MEDNIK syndrome, OMIM:609313 32306098;15668823;19057675;23423674;30244301 False 3 100;0;0 5.73 False ENSG00000106367 ENSG00000106367 HGNC:559 ATP11A gene ATP11A Expert Review Green;Literature;NHS GMS Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 84, OMIM:619810 35278131;36300302 False 3 100;0;0 5.73 False ENSG00000068650 ENSG00000068650 HGNC:13552 ATP2B2 gene ATP2B2 Expert;Expert Review Green;NHS GMS;UKGTN Monogenic hearing loss Audiology 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 3 67;33;0 5.73 False ENSG00000157087 ENSG00000157087 HGNC:815 ATP6V1B1 gene ATP6V1B1 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, OMIM:267300;renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss, MONDO:0009968 12566520;1373501;18798332;22509993;2527371;2869030;7945239;9916796;39837581 False 3 100;0;0 5.73 True ENSG00000116039 ENSG00000116039 HGNC:853 ATP6V1B2 gene ATP6V1B2 Expert Review;Expert Review Green;Literature Monogenic hearing loss Audiology 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 5.73 False ENSG00000147416 ENSG00000147416 HGNC:854 BCS1L gene BCS1L Expert;Expert Review Green Monogenic hearing loss Audiology 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 5.73 True ENSG00000074582 ENSG00000074582 HGNC:1020 BSND gene BSND Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology 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 5.73 True ENSG00000162399 ENSG00000162399 HGNC:16512 CABP2 gene CABP2 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 93, 614899 PMID:10625670;11108966;22981119 False 3 100;0;0 5.73 True ENSG00000167791 ENSG00000167791 HGNC:1385 CCDC50 gene CCDC50 Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology 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 5.73 True ENSG00000152492 ENSG00000152492 HGNC:18111 CDC14A gene CDC14A Expert list;Expert Review Green Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 32, with or without immotile sperm, OMIM:608653 29293958;27259055 False 3 100;0;0 5.73 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 Audiology 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 5.73 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 Audiology 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 5.73 True ENSG00000213892 ENSG00000213892 HGNC:31948 CEP250 gene CEP250 Expert Review Green;Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy and hearing loss 2, OMIM:618358, MONDO:0020780 24780881;29718797;30459346 False 3 100;0;0 5.73 False ENSG00000126001 ENSG00000126001 HGNC:1859 CEP78 gene CEP78 Expert Review Green;Other Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Cone-Rod Dystrophy and Hearing Loss;CRDHL;OMIM: 617236 28005958;27588451;27588452;27627988 False 3 0;0;0 5.73 False ENSG00000148019 ENSG00000148019 HGNC:25740 CHD7 gene CHD7 Emory Genetics Laboratory;Expert;Expert Review Green Monogenic hearing loss Audiology 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 5.73 True ENSG00000171316 ENSG00000171316 HGNC:20626 CIB2 gene CIB2 Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology 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 5.73 True ENSG00000136425 ENSG00000136425 HGNC:24579 CISD2 gene CISD2 Emory Genetics Laboratory;Expert Review Green Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal hearing loss;Wolfram syndrome 2, OMIM:604928 10739754;17846994;25056293;25371195 False 3 50;50;0 5.73 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 Audiology 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 5.73 True ENSG00000159261 ENSG00000159261 HGNC:2035 CLDN9 gene CLDN9 Expert;Expert Review Green;NHS GMS Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 116, OMIM:619093;deafness, autosomal recessive 116, MONDO:0033670 31175426;19696885;34265170 False 3 60;0;40 5.73 False ENSG00000213937 ENSG00000213937 HGNC:2051 CLPP gene CLPP Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal #614129:Perrault syndrome 3 PMID:10347188;11923310;16115876;17690910;21660509;22037954;23541340;23851121;8543061 False 3 100;0;0 5.73 True ENSG00000125656 ENSG00000125656 HGNC:2084 CLRN1 gene CLRN1 Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology 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 5.73 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 Audiology 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 5.73 True ENSG00000100473 ENSG00000100473 HGNC:2180 COL11A1 gene COL11A1 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology 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 5.73 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 Audiology 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 5.73 True ENSG00000204248 ENSG00000204248 HGNC:2187 COL2A1 gene COL2A1 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Stickler syndrome, type I, OMIM:108300 23110709;27408751;20179744 False 3 100;0;0 5.73 False ENSG00000139219 ENSG00000139219 HGNC:2200 COL4A5 gene COL4A5 Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology 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 5.73 True ENSG00000188153 ENSG00000188153 HGNC:2207 COL9A1 gene COL9A1 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Stickler syndrome, type IV, OMIM:614134;Hearing loss 16909383;21421862;23967202;31315069 False 3 67;0;33 5.73 False ENSG00000112280 ENSG00000112280 HGNC:2217 COL9A2 gene COL9A2 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Stickler syndrome, type V, OMIM:614284 21671392;31090205 False 3 100;0;0 5.73 False ENSG00000049089 ENSG00000049089 HGNC:2218 COL9A3 gene COL9A3 Expert;Expert Review Green;NHS GMS Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Stickler syndrome, MONDO:0019354 31090205;24273071 False 3 50;0;50 5.73 False ENSG00000092758 ENSG00000092758 HGNC:2219 CRLS1 gene CRLS1 Expert Review Green;Literature;NHS GMS Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 57, OMIM:620167 35147173 False 3 100;0;0 5.73 False ENSG00000088766 ENSG00000088766 HGNC:16148 CRYM gene CRYM Emory Genetics Laboratory;Expert;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology 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 5.73 True ENSG00000103316 ENSG00000103316 HGNC:2418 DAP3 gene DAP3 Expert Review Green;Literature;NHS GMS Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 7, OMIM:621101 39701103 False 3 100;0;0 5.73 False ENSG00000132676 ENSG00000132676 HGNC:2673 DFNA5 gene DFNA5 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology 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 5.73 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 Audiology 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 5.73 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 Audiology 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 5.73 True ENSG00000131504 ENSG00000131504 HGNC:2876 DMXL2 gene DMXL2 Expert Review Green;Other Monogenic hearing loss Audiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Deafness, autosomal dominant 71, OMIM:617605 27657680;22875945;25248098;31688942 False 3 67;33;0 5.73 False ENSG00000104093 ENSG00000104093 HGNC:2938 DNAJC3 gene DNAJC3 Expert Review Green;Literature;NHS GMS Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, OMIM:616192 25466870;28940199;32738013;33486469;34654017 False 3 100;0;0 5.73 False ENSG00000102580 ENSG00000102580 HGNC:9439 DNMT1 gene DNMT1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology 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 5.73 True ENSG00000130816 ENSG00000130816 HGNC:2976 DSPP gene DSPP Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology 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 5.73 True ENSG00000152591 ENSG00000152591 HGNC:3054 EDN3 gene EDN3 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology 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 5.73 True ENSG00000124205 ENSG00000124205 HGNC:3178 EDNRB gene EDNRB Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology 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 5.73 True ENSG00000136160 ENSG00000136160 HGNC:3180 EPS8 gene EPS8 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology 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 5.73 True ENSG00000151491 ENSG00000151491 HGNC:3420 EPS8L2 gene EPS8L2 Expert list;Expert Review Green Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 106, OMIM:617637 26282398;2391890;28281779 False 3 100;0;0 5.73 False ENSG00000177106 ENSG00000177106 HGNC:21296 ESPN gene ESPN Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology 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 5.73 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 Audiology 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 5.73 True ENSG00000119715 ENSG00000119715 HGNC:3473 EYA1 gene EYA1 Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology 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 5.73 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 Audiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 10, OMIM:601316 PMID: 10769282;11159937;15735644;17567890;17568404;18219393;19561593;9887327 False 3 100;0;0 5.73 True ENSG00000112319 ENSG00000112319 HGNC:3522 FDXR gene FDXR Expert list;Expert Review Green Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Auditory neuropathy and optic atrophy, OMIM:617717;Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887 28965846 False 3 100;0;0 5.73 False ENSG00000161513 ENSG00000161513 HGNC:3642 FGF3 gene FGF3 Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology 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 5.73 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 Audiology BIALLELIC, autosomal or pseudoautosomal Enlarged vestibular aqueduct, OMIM:600791;hearing loss disorder, MONDO:0005365 41833579;12642503;15173882;16932748;17503324;7957066;8825632;9843211;29242249 False 3 80;0;20 5.73 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 Audiology 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 5.73 True ENSG00000107485 ENSG00000107485 HGNC:4172 GGPS1 gene GGPS1 Expert Review Green;Literature;NHS GMS Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, OMIM:619518 32403198 False 3 100;0;0 5.73 False ENSG00000152904 ENSG00000152904 HGNC:4249 GIPC3 gene GIPC3 Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal hearing loss;#601869: Deafness, autosomal recessive 15 PMID:11836571;17690910;21326233;21660509;9286457 False 3 100;0;0 5.73 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 Audiology 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 5.73 True ENSG00000165474 ENSG00000165474 HGNC:4284 GJB6 gene GJB6 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal recessive 1B, OMIM:612645;autosomal recessive nonsyndromic hearing loss 1B, MONDO:0012977 10471490;11896458;11807148;15150777;20236118;24522190;26444186;29921236;39498320;19416251;40369851 False 3 50;33;17 5.73 False Other - please provide details in the comments ENSG00000121742 ENSG00000121742 HGNC:4288 GPR156 gene GPR156 Expert Review Green;NHS GMS;Research Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal sensorineural hearing loss disorder, MONDO:0020678 36928819 False 3 100;0;0 5.73 False ENSG00000175697 ENSG00000175697 HGNC:20844 GPSM2 gene GPSM2 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology 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 5.73 True ENSG00000121957 ENSG00000121957 HGNC:29501 GREB1L gene GREB1L Expert Review Green;Literature;NHS GMS Monogenic hearing loss Audiology 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 5.73 False ENSG00000141449 ENSG00000141449 HGNC:31042 GRHL2 gene GRHL2 Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology 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 5.73 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 Audiology BIALLELIC, autosomal or pseudoautosomal Nonsyndromic Hearing Loss, Recessive;Deafness, autosomal recessive 25, 613285;hearing loss PMID:15347914;20137774;20137778 False 3 100;0;0 5.73 True ENSG00000215203 ENSG00000215203 HGNC:31673 GRXCR2 gene GRXCR2 Expert;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal ?Deafness, autosomal recessive 101, OMIM:615837 24619944;33528103 False 3 100;0;0 5.73 False ENSG00000204928 ENSG00000204928 HGNC:33862 HAAO gene HAAO Expert Review Green;Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Multiple congenital malformations; VACTERL-like phenotype 27604308; 17334708; 28792876 False 3 0;0;0 5.73 False ENSG00000162882 ENSG00000162882 HGNC:4796 HARS2 gene HARS2 Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 2, OMIM:614926 12056811;15779907;21464306;517579;7755634;27650058;34406847;34338890 False 3 60;40;0 5.73 True ENSG00000112855 ENSG00000112855 HGNC:4817 HGF gene HGF Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 39, OMIM:608265 19576567;30303587 False 3 50;50;0 5.73 False Other - please provide details in the comments ENSG00000019991 ENSG00000019991 HGNC:4893 HOXA2 gene HOXA2 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services Monogenic hearing loss Audiology 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 5.73 True ENSG00000105996 ENSG00000105996 HGNC:5103 HSD17B4 gene HSD17B4 Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology 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 5.73 True ENSG00000133835 ENSG00000133835 HGNC:5213 ILDR1 gene ILDR1 Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal hearing loss;Deafness, autosomal recessive 42, 609646 PMID:15381095;15641023;21255762;24990150 False 3 100;0;0 5.73 True ENSG00000145103 ENSG00000145103 HGNC:28741 KARS gene KARS Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology 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 5.73 True ENSG00000065427 ENSG00000065427 HGNC:6215 KCNE1 gene KCNE1 Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology 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 5.73 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 Audiology 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 5.73 True ENSG00000177807 ENSG00000177807 HGNC:6256 KCNJ16 gene KCNJ16 Expert Review Green;Literature;NHS GMS Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Hypokalemic tubulopathy and deafness, OMIM:619406 33811157;33840812 False 3 50;50;0 5.73 False ENSG00000153822 ENSG00000153822 HGNC:6262 KCNQ1 gene KCNQ1 Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology 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 5.73 True ENSG00000053918 ENSG00000053918 HGNC:6294 KCNQ4 gene KCNQ4 Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology 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 5.73 True ENSG00000117013 ENSG00000117013 HGNC:6298 KIAA1024L gene KIAA1024L Expert Review Green;Literature;NHS GMS Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 120, OMIM:620238 35727972 False 3 100;0;0 5.73 False ENSG00000186367 ENSG00000186367 HGNC:33914 KIT gene KIT Expert;Expert Review Green;UKGTN Monogenic hearing loss Audiology 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 5.73 True ENSG00000157404 ENSG00000157404 HGNC:6342 LARS2 gene LARS2 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 4, OMIM:615300 PMID:10647888;12447374;15779907;20194621;23541342;9408748 False 3 100;0;0 5.73 True ENSG00000011376 ENSG00000011376 HGNC:17095 LETM1 gene LETM1 Expert Review;Expert Review Green;NHS GMS Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 36055214;33815143 False 3 100;0;0 5.73 False ENSG00000168924 ENSG00000168924 HGNC:6556 LHFPL5 gene LHFPL5 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Nonsyndromic Hearing Loss, Recessive;Deafness, autosomal recessive 67, 610265 PMID:15905332;16459341;16752389 False 3 100;0;0 5.73 True ENSG00000197753 ENSG00000197753 HGNC:21253 LHX3 gene LHX3 Expert;Expert Review Green;NHS GMS Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 3, OMIM:221750;sensorineural hearing loss disorder, MONDO:0020678 10835633;18407919;39548529 False 3 100;0;0 5.73 False ENSG00000107187 ENSG00000107187 HGNC:6595 LMX1A gene LMX1A Expert;Expert Review Green;NHS GMS Monogenic hearing loss Audiology 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 5.73 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 Audiology BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 77, OMIM:613079 16936105;19732867;21465660;22341973;33753533 False 3 100;0;0 5.73 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 Audiology 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 5.73 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 Audiology BIALLELIC, autosomal or pseudoautosomal Nonsyndromic Hearing Loss, Recessive;Deafness, autosomal recessive 49, 610153;hearing loss PMID:16365161;17186462;18084694 False 3 100;0;0 5.73 True ENSG00000152939 ENSG00000152939 HGNC:26401 MASP1 gene MASP1 Emory Genetics Laboratory;Expert Review Green Monogenic hearing loss Audiology 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 5.73 True ENSG00000127241 ENSG00000127241 HGNC:6901 MITF gene MITF Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology 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 5.73 True ENSG00000187098 ENSG00000187098 HGNC:7105 MN1 gene MN1 Expert Review Green;Literature Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CEBALID syndrome, OMIM:618774;CEBALID syndrome, MONDO:0032908 31834374;31839203 False 3 100;0;0 5.73 False ENSG00000169184 ENSG00000169184 HGNC:7180 MPZL2 gene MPZL2 Expert list;Expert Review Green Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 111, OMIM:618145;deafness, autosomal recessive 111, MONDO:0029142 29982980;29961571;32203226 False 3 100;0;0 5.73 False ENSG00000149573 ENSG00000149573 HGNC:3496 MRPL49 gene MRPL49 Expert Review Green;Literature;NHS GMS Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 60, OMIM:621195;combined oxidative phosphorylation deficiency, MONDO:0000732 40043708 False 3 100;0;0 5.73 False ENSG00000149792 ENSG00000149792 HGNC:1176 MSRB3 gene MSRB3 Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal hearing loss;Deafness, autosomal recessive 74, 613718 PMID:14699060;15249228;19650862;21185009;24191262 False 3 100;0;0 5.73 True ENSG00000174099 ENSG00000174099 HGNC:27375 MT-RNR1 gene MT-RNR1 Emory Genetics Laboratory;Expert Review Green;UKGTN Monogenic hearing loss Audiology 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 5.73 True ENSG00000211459 ENSG00000211459 HGNC:7470 MT-TS1 gene MT-TS1 Emory Genetics Laboratory;Expert Review Green Monogenic hearing loss Audiology 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 5.73 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 Audiology 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 5.73 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 Audiology 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 5.73 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 Audiology 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 5.73 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 Audiology 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 5.73 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 Audiology 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 5.73 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 Audiology 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 5.73 True ENSG00000137474 ENSG00000137474 HGNC:7606 NLRP12 gene NLRP12 Expert Review Green;Literature;NHS GMS Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial cold autoinflammatory syndrome 2, OMIM:611762;sensorineural hearing loss disorder, MONDO:0020678 18230725;24064030;31820221 False 3 100;0;0 5.73 False ENSG00000142405 ENSG00000142405 HGNC:22938 OGDHL gene OGDHL Expert Review Green;Literature;NHS GMS Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Yoon-Bellen neurodevelopmental syndrome, OMIM:619701 28017472;34800363 False 3 100;0;0 5.73 False ENSG00000197444 ENSG00000197444 HGNC:25590 OPA1 gene OPA1 Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology 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 5.73 True ENSG00000198836 ENSG00000198836 HGNC:8140 OSBPL2 gene OSBPL2 Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology 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 5.73 True ENSG00000130703 ENSG00000130703 HGNC:15761 OTOA gene OTOA Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology 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 5.73 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 Audiology 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 5.73 True ENSG00000115155 ENSG00000115155 HGNC:8515 OTOG gene OTOG Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 18B, 614945 PMID:10337628;10655058;23122587;8128966;9405633 False 3 100;0;0 5.73 True ENSG00000188162 ENSG00000188162 HGNC:8516 OTOGL gene OTOGL Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 84B, 614944 23122586 False 3 100;0;0 5.73 False ENSG00000165899 ENSG00000165899 HGNC:26901 P2RX2 gene P2RX2 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology 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 5.73 True ENSG00000187848 ENSG00000187848 HGNC:15459 PAX2 gene PAX2 Expert;Expert Review Green Monogenic hearing loss Audiology 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 5.73 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 Audiology 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 5.73 True ENSG00000135903 ENSG00000135903 HGNC:8617 PBX1 gene PBX1 Expert Review Green;Literature;NHS GMS Monogenic hearing loss Audiology 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 5.73 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 Audiology 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 5.73 True ENSG00000150275 ENSG00000150275 HGNC:14674 PDZD7 gene PDZD7 Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology 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 5.73 True ENSG00000186862 ENSG00000186862 HGNC:26257 PKHD1L1 gene PKHD1L1 Expert Review Green;Literature;NHS GMS Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 124, OMIM:620794 38459354 False 3 100;0;0 5.73 False ENSG00000205038 ENSG00000205038 HGNC:20313 PLS1 gene PLS1 Expert list;Expert Review Green Monogenic hearing loss Audiology 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 5.73 False ENSG00000120756 ENSG00000120756 HGNC:9090 PLXNB2 gene PLXNB2 Expert Review Green;Literature;NHS GMS Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal amelogenesis imperfecta, MONDO:0019507;sensorineural hearing loss disorder, MONDO:0020678;intellectual disability, MONDO:0001071 38458752 False 3 100;0;0 5.73 False ENSG00000196576 ENSG00000196576 HGNC:9104 PNPT1 gene PNPT1 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology 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 5.73 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 Audiology 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 5.73 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 Audiology 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 5.73 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 Audiology 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 5.73 True ENSG00000147224 ENSG00000147224 HGNC:9462 PSMC3 gene PSMC3 Expert Review Green;Literature;NHS GMS Monogenic hearing loss Audiology 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 3 100;0;0 5.73 False ENSG00000165916 ENSG00000165916 HGNC:9549 PTPRQ gene PTPRQ Expert;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology BOTH monoallelic and 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 5.73 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 Audiology 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 5.73 True ENSG00000137710 ENSG00000137710 HGNC:9944 RFC4 gene RFC4 Expert Review Green;Literature;NHS GMS Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal sensorineural hearing loss disorder, MONDO:0020678 39106866 False 3 100;0;0 5.73 False ENSG00000163918 ENSG00000163918 HGNC:9972 RNF220 gene RNF220 Expert Review Green;Literature;NHS GMS;Other Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Sensorineural hearing impairment, HP:0000407 33964137;10881263 False 3 100;0;0 5.73 False ENSG00000187147 ENSG00000187147 HGNC:25552 S1PR2 gene S1PR2 Expert;Expert Review Green Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 68 610419 26805784;29776397 False 3 50;0;50 5.73 False ENSG00000267534 ENSG00000267534 HGNC:3169 SALL1 gene SALL1 Emory Genetics Laboratory;Expert Review Green Monogenic hearing loss Audiology 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 5.73 True ENSG00000103449 ENSG00000103449 HGNC:10524 SALL4 gene SALL4 Emory Genetics Laboratory;Expert Review Green Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "hearing loss;Duane-radial ray syndrome 607323;IVIC syndrome 147750" False 3 100;0;0 5.73 True ENSG00000101115 ENSG00000101115 HGNC:15924 SERAC1 gene SERAC1 Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology 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 5.73 False ENSG00000122335 ENSG00000122335 HGNC:21061 SERPINB6 gene SERPINB6 Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology 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 5.73 True ENSG00000124570 ENSG00000124570 HGNC:8950 SGPL1 gene SGPL1 Expert Review Green;Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal "Nephrotic syndrome 14 617575" 28181337; 28165339; 28165343 False 3 100;0;0 5.73 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 Audiology 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 5.73 True ENSG00000126778 ENSG00000126778 HGNC:10887 SLC12A2 gene SLC12A2 Expert;Expert Review Green Monogenic hearing loss Audiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bilateral sensorineural hearing loss;Intellectual disability;Secretory defects 30740830;32294086;32754646;32658972 False 3 67;0;33 5.73 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 Audiology 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 5.73 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 Audiology 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 5.73 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 Audiology 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 5.73 True ENSG00000170615 ENSG00000170615 HGNC:9359 SLC4A11 gene SLC4A11 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology 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 5.73 True ENSG00000088836 ENSG00000088836 HGNC:16438 SLC52A2 gene SLC52A2 Expert list;Expert Review Green Monogenic hearing loss Audiology 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 5.73 False ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A3 gene SLC52A3 Expert list;Expert Review Green Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 1, OMIM:211530 20206331;20920669 False 3 0;0;0 5.73 False ENSG00000101276 ENSG00000101276 HGNC:16187 SLITRK6 gene SLITRK6 Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Deafness and myopia, OMIM:221200;high myopia-sensorineural deafness syndrome MONDO:0009082 29551497;23946138;23543054 False 3 100;0;0 5.73 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 Audiology 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 5.73 True ENSG00000091482 ENSG00000091482 HGNC:11122 SOX10 gene SOX10 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology 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 5.73 True ENSG00000100146 ENSG00000100146 HGNC:11190 SPATA5 gene SPATA5 Expert Review Green;Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, OMIM:616577 26299366;29343804;28293831 False 3 100;0;0 5.73 False ENSG00000145375 ENSG00000145375 HGNC:18119 SPATA5L1 gene SPATA5L1 Expert Review Green;Literature;NHS GMS Monogenic hearing loss Audiology 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 5.73 False ENSG00000171763 ENSG00000171763 HGNC:28762 STRC gene STRC Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 16, 603720 PMID:11687802;12434312;12825070;17098888;18849963;22147502;26011646 False 3 100;0;0 5.73 True ENSG00000242866 ENSG00000242866 HGNC:16035 SYNE4 gene SYNE4 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 76, 615540 23348741;28958982 False 3 100;0;0 5.73 False ENSG00000181392 ENSG00000181392 HGNC:26703 TBC1D24 gene TBC1D24 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology 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 5.73 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 Audiology 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 5.73 True ENSG00000109927 ENSG00000109927 HGNC:11720 TIMM8A gene TIMM8A Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology 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 5.73 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 Audiology 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 5.73 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 Audiology BIALLELIC, autosomal or pseudoautosomal Nonsyndromic Hearing Loss, Recessive;Deafness, autosomal recessive 6, 600971;hearing loss False 3 100;0;0 5.73 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 Audiology 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 5.73 True ENSG00000160183 ENSG00000160183 HGNC:11877 TPRN gene TPRN Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal hearing loss;Deafness, autosomal recessive 79, 613307 PMID:19603065;20170898;20170899 False 3 100;0;0 5.73 True ENSG00000176058 ENSG00000176058 HGNC:26894 TRIOBP gene TRIOBP Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal hearing loss;Deafness, autosomal recessive 28, 609823 PMID:11148140;11258795;16385457;16385458;20510926 False 3 100;0;0 5.73 True ENSG00000100106 ENSG00000100106 HGNC:17009 TUBB4B gene TUBB4B Expert Review Green;Literature;NHS GMS Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leber congenital amaurosis with early-onset deafness, OMIM:617879;sensorineural hearing loss disorder, MONDO:0020678 29198720;38662826;39115449 False 3 100;0;0 5.73 False ENSG00000188229 ENSG00000188229 HGNC:20771 USH1C gene USH1C Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology 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 5.73 True ENSG00000006611 ENSG00000006611 HGNC:12597 USH1G gene USH1G Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology 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 5.73 True ENSG00000182040 ENSG00000182040 HGNC:16356 USH2A gene USH2A Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology 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 5.73 True ENSG00000042781 ENSG00000042781 HGNC:12601 USP48 gene USP48 Expert Review Green;Literature;NHS GMS Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown non-syndromic hearing loss;nonsyndromic genetic deafness, MONDO:0019497;Deafness, autosomal dominant 85, OMIM:620227 34059922 False 3 100;0;0 5.73 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 Audiology 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 5.73 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 Audiology 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 5.73 True ENSG00000095397 ENSG00000095397 HGNC:16361 XPA gene XPA Expert;Expert Review Green;NHS GMS Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group A, OMIM: 278700 39621777 False 3 67;0;33 5.73 False ENSG00000136936 ENSG00000136936 HGNC:12814 ABCC1 gene ABCC1 Expert Review Amber;Literature Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nonsyndromic hearing loss;?Deafness, autosomal dominant 77, 618915 31273342 False 2 0;100;0 5.73 False ENSG00000103222 ENSG00000103222 HGNC:51 ACOX1 gene ACOX1 Expert Review Amber Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 100;0;0 5.73 False ENSG00000161533 ENSG00000161533 HGNC:119 AP1B1 gene AP1B1 ClinGen;Expert Review Amber;Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Keratitis-ichthyosis-deafness syndrome, autosomal recessive, OMIM:242150;KID syndrome, MONDO:0018781 31630791;33452671;33349978;32969855;35144013 False 2 100;0;0 5.73 False ENSG00000100280 ENSG00000100280 HGNC:554 ARSG gene ARSG Expert Review Amber;Other Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type IV, OMIM:618144;usher syndrome, type 4, MONDO:0029141 29300381;32455177;33300174;33629623;35226187 False 2 100;0;0 5.73 False ENSG00000141337 ENSG00000141337 HGNC:24102 ATOH1 gene ATOH1 Expert;Expert Review Amber Monogenic hearing loss Audiology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal ?Deafness, autosomal dominant 89 , OMIM:620284;hearing loss, autosomal dominant 89, MONDO:0859528;pontocerebellar hypoplasia, MONDO:0020135 9367153;21146598;33111345;35518571;41592563 False 2 33;0;67 5.73 False ENSG00000172238 ENSG00000172238 HGNC:797 CACNA1D gene CACNA1D Expert;Expert Review Amber;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Sinoatrial node dysfunction and deafness, OMIM:614896;sinoatrial node dysfunction and deafness, MONDO:0013960 10929716;21131953;30498240;30054272;32747562 False 2 100;0;0 5.73 False ENSG00000157388 ENSG00000157388 HGNC:1391 CLIC5 gene CLIC5 Expert;Expert Review Amber;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal #616042:?Deafness, autosomal recessive 103;PMID: 24781754 (Nijjmegen group) progressive hearing impairment, vestibular and possibly mild renal dysfunction PMID:10793131;17021174;18028448;24781754 False 2 50;50;0 5.73 True ENSG00000112782 ENSG00000112782 HGNC:13517 CLRN2 gene CLRN2 Expert Review Amber;Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal ?Deafness, autosomal recessive 117, OMIM:619174;deafness, autosomal recessive 117, MONDO:0030905 33496845 False 2 0;100;0 5.73 False ENSG00000249581 ENSG00000249581 HGNC:33939 COG4 gene COG4 Expert Review Amber;Literature Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Saul-Wilson syndrome, OMIM:618150;microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407 31949312;30290151 False 2 0;100;0 5.73 False Other ENSG00000103051 ENSG00000103051 HGNC:18620 COL4A6 gene COL4A6 Expert;Expert Review Amber;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Deafness, X-linked 6, OMIM:300914 PMID: 23714752;7592929;7711741;7972123;8125972;8175748;8356449;8661006;9463311 False 2 33;0;67 5.73 True ENSG00000197565 ENSG00000197565 HGNC:2208 DHRSX gene DHRSX Expert Review Amber Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type 1DD, OMIM:301133 38821050 False 2 20;20;60 5.73 False ENSG00000169084 ENSG00000169084 HGNC:18399 DIABLO gene DIABLO Emory Genetics Laboratory;Expert;Expert Review Amber;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown hearing loss;#614152:Deafness, autosomal dominant 64 10929711;10929712;10972280;11140637;11140638;11242052;11971981;15557007;15814844;21722859;21722859;26969326 False 2 0;50;50 5.73 True ENSG00000184047 ENSG00000184047 HGNC:21528 DIAPH3 gene DIAPH3 Expert Review Amber;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Auditory neuropathy, autosomal dominant, 1, 609129 14767582;15520414;18755006;19457867;20624953;20624953;27658576 False 2 50;0;50 5.73 True Other - please provide details in the comments ENSG00000139734 ENSG00000139734 HGNC:15480 ELMOD3 gene ELMOD3 Expert;Expert Review Amber;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Deafness, autosomal recessive 88, 615429;Deafness, autosomal dominant 240396609;31628468;30284680;29713870 False 2 0;100;0 5.73 False ENSG00000115459 ENSG00000115459 HGNC:26158 ESRP1 gene ESRP1 Expert list;Expert Review Amber Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 109, 618013 29107558 False 2 0;100;0 5.73 False ENSG00000104413 ENSG00000104413 HGNC:25966 FOXF2 gene FOXF2 Expert Review Amber;Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal profound sensorineural hearing loss (SNHL);cochlea malformations;incomplete partition type I anomaly of the cochlea 30561639;22022403 False 2 0;100;0 5.73 False ENSG00000137273 ENSG00000137273 HGNC:3810 GJB3 gene GJB3 Emory Genetics Laboratory;Expert;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal hearing loss;Nonsyndromic Hearing Loss, Dominant;Erythrokeratodermia variabilis et progressiva, 133200;Deafness, autosomal dominant 2B, 612644;Deafness, autosomal recessive;Deafness, autosomal dominant, with peripheral neuropathy;Deafness, digenic, GJB2/GJB3, 220290 PMID:10587579;10594760;10757647;10798362;11175305;11309368;12019212;12165562;12452892;14583444;16549784;17446259;1828175;19050930;19755382;9347797;9704026;9843209;9843210 False 2 25;50;25 5.73 True ENSG00000188910 ENSG00000188910 HGNC:4285 HOMER2 gene HOMER2 Expert list;Expert Review Amber Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Deafness, autosomal dominant 68, MIM#616707 25816005;30047143;25816005 False 2 50;50;0 5.73 False ENSG00000103942 ENSG00000103942 HGNC:17513 KDM3B gene KDM3B Expert Review Amber;Victorian Clinical Genetics Services Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diets-Jongmans syndrome, OMIM:618846;Diets-Jongmans syndrome, MONDO:0030012 30929739 False 2 50;50;0 5.73 False ENSG00000120733 ENSG00000120733 HGNC:1337 KIAA0391 gene KIAA0391 Expert Review Amber;Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 54, OMIM:619737 34715011;37558808 False 2 100;0;0 5.73 False ENSG00000100890 ENSG00000100890 HGNC:19958 KITLG gene KITLG Expert;Expert Review Amber Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Deafness, autosomal dominant 69, unilateral or asymmetric 616697 26522471;28504826 False 2 0;100;0 5.73 False ENSG00000049130 ENSG00000049130 HGNC:6343 MET gene MET Expert list;Expert Review Amber Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 97 OMIM:616705;autosomal recessive nonsyndromic deafness 97 MONDO:0014739" 25941349;27717089 False 2 0;100;0 5.73 False ENSG00000105976 ENSG00000105976 HGNC:7029 MIR96 gene MIR96 Expert;Expert Review Amber;UKGTN Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Deafness, autosomal dominant 50 613074 19363479;22038834;30245029 False 2 0;100;0 5.73 False ENSG00000199158 ENSG00000199158 HGNC:31648 MORC2 gene MORC2 Expert Review Amber;Literature Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688;Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, OMIM:619090 32693025 False 2 100;0;0 5.73 False ENSG00000133422 ENSG00000133422 HGNC:23573 MT-CO1 gene MT-CO1 Expert Review Amber;Literature Monogenic hearing loss Audiology MITOCHONDRIAL Deafness, non-syndromic sensorineural, mitochondrial, OMIM: 500008;mitochondrial non-syndromic sensorineural hearing loss, MONDO:0010779 10577941;16152638;9832034;30035268;26328603;29605341;32169613 False 2 100;0;0 5.73 False ENSG00000198804 ENSG00000198804 HGNC:7419 MT-TK gene MT-TK Expert Review Amber;Literature Monogenic hearing loss Audiology MITOCHONDRIAL MERRF syndrome, MONDO:0010790;Sensorineural hearing impairment, HP:0000407 8651277;1899320;23224446 False 2 100;0;0 5.73 False Other ENSG00000210156 ENSG00000210156 HGNC:7489 MT-TL1 gene MT-TL1 Expert Review Amber;UKGTN Monogenic hearing loss Audiology MITOCHONDRIAL MELAS syndrome caused by mutation in MTTL1, MONDO:0800032;maternally-inherited diabetes and deafness, MONDO:0010785;Sensorineural hearing impairment, HP:0000407 22403016;23355809;35455034 False 2 67;0;33 5.73 False ENSG00000209082 ENSG00000209082 HGNC:7490 MT-TS2 gene MT-TS2 Expert Review Amber;Literature Monogenic hearing loss Audiology MITOCHONDRIAL Sensorineural hearing impairment, HP:0000407 9792552;10090882;12086967 False 2 100;0;0 5.73 False Other ENSG00000210184 ENSG00000210184 HGNC:7498 NARS2 gene NARS2 Expert list;Expert Review Amber Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 94 OMIM:618434;Combined oxidative phosphorylation deficiency 24 OMIM:616239;deafness, autosomal recessive 94 MONDO:0032749;combined oxidative phosphorylation defect type 24 MONDO:0014547 25807530;28077841;30327238;25385316 False 2 0;50;50 5.73 False ENSG00000137513 ENSG00000137513 HGNC:26274 NTN1 gene NTN1 Expert;Expert Review Amber Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted sensorineural hearing loss disorder, MONDO:0020678 28945198;39648562 False 2 0;50;50 5.73 False ENSG00000065320 ENSG00000065320 HGNC:8029 OXR1 gene OXR1 Expert Review Amber;Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal sensorineural hearing loss disorder, MONDO:0020678 36130215 False 2 0;100;0 5.73 False ENSG00000164830 ENSG00000164830 HGNC:15822 PDSS1 gene PDSS1 Expert Review Amber;Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 2, OMIM:614651 33285023;17332895 False 2 0;100;0 5.73 False ENSG00000148459 ENSG00000148459 HGNC:17759 PLCG1 gene PLCG1 Expert Review Amber;Literature Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hearing impairment;ophthalmologic abnormalities;cardiac septal defects 38260438 False 2 0;100;0 5.73 False ENSG00000124181 ENSG00000124181 HGNC:9065 PMP22 gene PMP22 Expert;Expert Review Amber Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, type 1E OMIM:118300;Charcot-Marie-Tooth disease type 1E MONDO:0007311 8355122;10330345;12578939 False 2 0;100;0 5.73 False ENSG00000109099 ENSG00000109099 HGNC:9118 PPIP5K2 gene PPIP5K2 Expert list;Expert Review Amber Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 100, MIM#618422;deafness, autosomal recessive 100 MONDO:0032740 29590114 False 2 0;100;0 5.73 False ENSG00000145725 ENSG00000145725 HGNC:29035 PTRH2 gene PTRH2 Expert Review Amber;Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, OMIM:616263;neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1, MONDO:8000012 25574476;25558065;27129381;31057140 False 2 100;0;0 5.73 False ENSG00000141378 ENSG00000141378 HGNC:24265 RIPOR2 gene RIPOR2 Expert list;Expert Review Amber;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal dominant 21, OMIM:607017;?Deafness, autosomal recessive 104, OMIM:616515 27269051;24958875;32631815;37864412 False 2 25;75;0 5.73 False ENSG00000111913 ENSG00000111913 HGNC:13872 ROR1 gene ROR1 Expert list;Expert Review Amber Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 108, MIM#617654;deafness, autosomal recessive 108 MONDO:0033200 27162350 False 2 0;100;0 5.73 False ENSG00000185483 ENSG00000185483 HGNC:10256 SLC19A2 gene SLC19A2 Expert;Expert Review Amber Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270;thiamine-responsive megaloblastic anemia syndrome, MONDO:0009575 11386850;31095747;38037112;40220483 False 2 100;0;0 5.73 False ENSG00000117479 ENSG00000117479 HGNC:10938 SNAI2 gene SNAI2 Expert;Expert Review Amber;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Waardenburg syndrome, type 2D, OMIM:608890;Waardenburg syndrome type 2, MONDO_0019517 PMID: 10518215;12149208;12444107;12955764;15691760;16142232;16286009;17905753;21512031;24443330;26331542;7513443;9182671;9337409;9721220 False 2 33;67;0 5.73 True ENSG00000019549 ENSG00000019549 HGNC:11094 SOX2 gene SOX2 Expert;Expert Review Amber;NHS GMS Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted #206900:Optic nerve hypoplasia and abnormalities of the central nervous system;Hearing loss, sensorineural PMID:10564870;11135495;12002146;12036291;12461687;12612584;14517545;15240551;15346919;15389708;15812812;15846349;16145681;16283891;16470798;16543359;16651659;16712695;16892407;16904174;16932809;17015430;17219395;17515932;17522155;17554336;17554338;18029452;18157115;18285410;18385377;18806776;18818365;18831064;18845712;19254784;19403656;19801978;19898493;19921648;20803647;21326281;21331042;21532573;21919124;24048479;24909994;7849401;8741917;30262714;16932809;16145681 False 2 25;75;0 5.73 True ENSG00000181449 ENSG00000181449 HGNC:11195 SPATC1L gene SPATC1L Expert list;Expert Review Amber Monogenic hearing loss Audiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness 30177775 False 2 0;100;0 5.73 False ENSG00000160284 ENSG00000160284 HGNC:1298 SPNS2 gene SPNS2 Expert list;Expert Review Amber Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 115, MIM#618457 30973865;25356849 False 2 0;100;0 5.73 False ENSG00000183018 ENSG00000183018 HGNC:26992 SPTBN4 gene SPTBN4 Expert Review Amber;Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, OMIM:617519 28540413;29861105;31230720;32672909 False 2 0;100;0 5.73 False ENSG00000160460 ENSG00000160460 HGNC:14896 STX4 gene STX4 Expert Review Amber;Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Hearing impairment, HP:0000365 36355422 False 2 0;100;0 5.73 False ENSG00000103496 ENSG00000103496 HGNC:11439 STXBP3 gene STXBP3 Expert Review;Expert Review Amber Monogenic hearing loss Audiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Very Early Onset Inflammatory Bowel Disease;Sensorineural hearing loss 33346580;https://doi.org/10.1053/j.gastro.2017.11.120;33891011 False 2 33;67;0 5.73 False ENSG00000116266 ENSG00000116266 HGNC:11446 TBX2 gene TBX2 Expert Review Amber;Literature Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hearing loss disorder, MONDO:0005365 15459098;20206336;21271665;22052739;35508658 False 2 100;0;0 5.73 False ENSG00000121068 ENSG00000121068 HGNC:11597 THOC1 gene THOC1 Expert Review Amber;Literature Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nonsyndromic hearing loss;nonsyndromic genetic deafness MONDO:0019497 32776944 False 2 0;100;0 5.73 False ENSG00000079134 ENSG00000079134 HGNC:19070 TMTC2 gene TMTC2 Expert list;Expert Review Amber Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Deafness;Sensorineural hearing loss 29671961;27311106 False 2 0;100;0 5.73 False ENSG00000179104 ENSG00000179104 HGNC:25440 TNC gene TNC Expert;Expert Review Amber;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Deafness, autosomal dominant 56, 615629 23936043 False 2 0;100;0 5.73 False ENSG00000041982 ENSG00000041982 HGNC:5318 TOP2B gene TOP2B Expert list;Expert Review Amber Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Deafness, autosomal dominant;nonsyndromic hearing loss 31198993 False 2 0;100;0 5.73 False ENSG00000077097 ENSG00000077097 HGNC:11990 WBP2 gene WBP2 Expert list;Expert Review Amber Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 107, 617639 26881968 False 2 0;100;0 5.73 False ENSG00000132471 ENSG00000132471 HGNC:12738 YARS gene YARS Expert Review Amber;Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal "Charcot-Marie-Tooth disease, dominant intermediate C 608323;Intellectual disability;deafness;nystagmus;liver dysfunction" 30304524;29232904;27633801 False 2 0;100;0 5.73 False ENSG00000134684 ENSG00000134684 HGNC:12840 ABHD5 gene ABHD5 Emory Genetics Laboratory Monogenic hearing loss Audiology hearing loss False 1 0;0;100 5.73 False ENSG00000011198 ENSG00000011198 HGNC:21396 ABR gene ABR Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000159842 ENSG00000159842 HGNC:81 ACAN gene ACAN Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000157766 ENSG00000157766 HGNC:319 ACTB gene ACTB Expert;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310;Dystonia, juvenile onset, 607371 False 1 0;0;100 5.73 False ENSG00000075624 ENSG00000075624 HGNC:132 ADCY1 gene ADCY1 Expert;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology ?Deafness, autosomal recessive 44, 610154 False 1 0;0;0 5.73 False ENSG00000164742 ENSG00000164742 HGNC:232 ALDH1A2 gene ALDH1A2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000128918 ENSG00000128918 HGNC:15472 AP3D1 gene AP3D1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000065000 ENSG00000065000 HGNC:568 APAF1 gene APAF1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000120868 ENSG00000120868 HGNC:576 APOPT1 gene APOPT1 Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061 25175347 False 1 0;0;0 5.73 False ENSG00000256053 ENSG00000256053 HGNC:20492 AQP4 gene AQP4 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000171885 ENSG00000171885 HGNC:637 ARSB gene ARSB Emory Genetics Laboratory Monogenic hearing loss Audiology hearing loss False 1 0;0;0 5.73 False ENSG00000113273 ENSG00000113273 HGNC:714 ATF2 gene ATF2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000115966 ENSG00000115966 HGNC:784 ATP1A2 gene ATP1A2 Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology Alternating hemiplegia of childhood, 104290Migraine, familial basilar, 602481Migraine, familial hemiplegic, 2, 602481 False 1 0;0;100 5.73 False ENSG00000018625 ENSG00000018625 HGNC:800 ATP6V0A4 gene ATP6V0A4 UKGTN Monogenic hearing loss Audiology Distal renal tubular acidosis 3, with or without sensorineural hearing loss, OMIM:602722 12414817;16611712 False 1 0;0;100 5.73 False ENSG00000105929 ENSG00000105929 HGNC:866 ATP8B1 gene ATP8B1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000081923 ENSG00000081923 HGNC:3706 AXIN1 gene AXIN1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000103126 ENSG00000103126 HGNC:903 BARHL1 gene BARHL1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000125492 ENSG00000125492 HGNC:953 BBS1 gene BBS1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000174483 ENSG00000174483 HGNC:966 BBS4 gene BBS4 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000140463 ENSG00000140463 HGNC:969 BCAP31 gene BCAP31 Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology Deafness, dystonia and cerebellar hypomyelination, 300475 False 1 0;0;0 5.73 False ENSG00000185825 ENSG00000185825 HGNC:16695 BCR gene BCR Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000186716 ENSG00000186716 HGNC:1014 BDNF gene BDNF Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000176697 ENSG00000176697 HGNC:1033 BDP1 gene BDP1 Expert;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology No OMIM phenotypeHearing loss (Girotto (2013) PLoS One 8,e80323);PMID: 24312468 moderate to severe hearing impairment PMID: 11040218;11161782;24312468 False 1 0;33;67 5.73 True ENSG00000145734 ENSG00000145734 HGNC:13652 BLOC1S5 gene BLOC1S5 Expert list Monogenic hearing loss Audiology Unknown False 1 0;0;0 5.73 False ENSG00000188428 ENSG00000188428 HGNC:18561 BLOC1S6 gene BLOC1S6 Expert list Monogenic hearing loss Audiology Unknown False 1 0;0;0 5.73 False ENSG00000104164 ENSG00000104164 HGNC:8549 BMP4 gene BMP4 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000125378 ENSG00000125378 HGNC:1071 BSN gene BSN Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000164061 ENSG00000164061 HGNC:1117 BTD gene BTD Emory Genetics Laboratory Monogenic hearing loss Audiology hearing loss False 1 0;0;0 5.73 False ENSG00000169814 ENSG00000169814 HGNC:1122 CACNB2 gene CACNB2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000165995 ENSG00000165995 HGNC:1402 CACNG2 gene CACNG2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000166862 ENSG00000166862 HGNC:1406 CASP3 gene CASP3 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000164305 ENSG00000164305 HGNC:1504 CATSPER2 gene CATSPER2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000166762 ENSG00000166762 HGNC:18810 CD151 gene CD151 Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology Nephropathy with pretibial epidermolysis bullosa and deafness, 609057;Nephropathywithpretibialepidermolysisbullosaanddeafness,609057 False 1 0;0;100 5.73 False ENSG00000177697 ENSG00000177697 HGNC:1630 CD164 gene CD164 Expert list Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Deafness, autosomal dominant 66 616969 26197441 False 1 0;0;100 5.73 False ENSG00000135535 ENSG00000135535 HGNC:1632 CDKN1B gene CDKN1B Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000111276 ENSG00000111276 HGNC:1785 CDKN2D gene CDKN2D Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000129355 ENSG00000129355 HGNC:1790 CELSR1 gene CELSR1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000075275 ENSG00000075275 HGNC:1850 CHRNA9 gene CHRNA9 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000174343 ENSG00000174343 HGNC:14079 CKB gene CKB Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000166165 ENSG00000166165 HGNC:1991 CLDN11 gene CLDN11 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000013297 ENSG00000013297 HGNC:8514 CLNS1A gene CLNS1A Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000074201 ENSG00000074201 HGNC:2080 CNRIP1 gene CNRIP1 Literature Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Deafness, autosomal dominant 58 MIM#615654" 32337552;19159392 False 1 0;0;100 5.73 False ENSG00000119865 ENSG00000119865 HGNC:24546 COL4A3 gene COL4A3 Expert;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology Alport syndrome, autosomal recessive, 203780Hematuria, benign familial, 141200Alport syndrome, autosomal dominant, 104200;Alportsyndrome,autosomalrecessive,203780Hematuria,benignfamilial,141200Alportsyndrome,autosomaldominant,104200 False 1 0;0;0 5.73 False ENSG00000169031 ENSG00000169031 HGNC:2204 COL4A4 gene COL4A4 Expert;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology Alport syndrome 2, autosomal recessive, OMIM:203780;Hematuria,familial benign, OMIM:141200 False 1 0;0;0 5.73 False ENSG00000081052 ENSG00000081052 HGNC:2206 CPLX1 gene CPLX1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000168993 ENSG00000168993 HGNC:2309 DACT1 gene DACT1 Literature;Other Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Townes-Brocks syndrome 2,617466; TBS2 28054444;22610794;19701191 False 1 0;0;100 5.73 False ENSG00000165617 ENSG00000165617 HGNC:17748 DDB2 gene DDB2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000134574 ENSG00000134574 HGNC:2718 DDR1 gene DDR1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000204580 ENSG00000204580 HGNC:2730 DIO2 gene DIO2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000211448 ENSG00000211448 HGNC:2884 DIO3 gene DIO3 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000197406 ENSG00000197406 HGNC:2885 DLX2 gene DLX2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000115844 ENSG00000115844 HGNC:2915 DLX5 gene DLX5 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000105880 ENSG00000105880 HGNC:2918 DMD gene DMD Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000198947 ENSG00000198947 HGNC:2928 DVL1 gene DVL1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000107404 ENSG00000107404 HGNC:3084 DVL2 gene DVL2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000004975 ENSG00000004975 HGNC:3086 DVL3 gene DVL3 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000161202 ENSG00000161202 HGNC:3087 EPHA10 gene EPHA10 Literature Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted postlingual non-syndromic genetic hearing loss, MONDO:0016298 36048850 False 1 0;0;100 5.73 False ENSG00000183317 ENSG00000183317 HGNC:19987 EPHB1 gene EPHB1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000154928 ENSG00000154928 HGNC:3392 EPHB2 gene EPHB2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000133216 ENSG00000133216 HGNC:3393 EPHB3 gene EPHB3 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000182580 ENSG00000182580 HGNC:3394 ERAL1 gene ERAL1 Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal "Perrault syndrome 6 617565" 28449065 False 1 0;0;100 5.73 False ENSG00000132591 ENSG00000132591 HGNC:3424 ERBB4 gene ERBB4 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000178568 ENSG00000178568 HGNC:3432 ERCC1 gene ERCC1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000012061 ENSG00000012061 HGNC:3433 ERCC2 gene ERCC2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC3 gene ERCC3 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000163161 ENSG00000163161 HGNC:3435 ERCC4 gene ERCC4 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000175595 ENSG00000175595 HGNC:3436 ERCC5 gene ERCC5 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000134899 ENSG00000134899 HGNC:3437 ESR2 gene ESR2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000140009 ENSG00000140009 HGNC:3468 FABP4 gene FABP4 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000170323 ENSG00000170323 HGNC:3559 FAS gene FAS Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000026103 ENSG00000026103 HGNC:11920 FBXO2 gene FBXO2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000116661 ENSG00000116661 HGNC:13581 FGFR1 gene FGFR1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000077782 ENSG00000077782 HGNC:3688 FGFR2 gene FGFR2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000066468 ENSG00000066468 HGNC:3689 FGFR3 gene FGFR3 Emory Genetics Laboratory;Expert Monogenic hearing loss Audiology hearing loss False 1 0;0;0 5.73 False ENSG00000068078 ENSG00000068078 HGNC:3690 FIGN gene FIGN Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000182263 ENSG00000182263 HGNC:13285 FKBP14 gene FKBP14 Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss,;Ehlers Danlossyndromewithprogressivekyphoscoliosis,myopathy,andhearingloss,614557 False 1 0;0;0 5.73 False ENSG00000106080 ENSG00000106080 HGNC:18625 FOXC1 gene FOXC1 Emory Genetics Laboratory Monogenic hearing loss Audiology hearing loss False 1 0;0;0 5.73 False ENSG00000054598 ENSG00000054598 HGNC:3800 FOXG1 gene FOXG1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000176165 ENSG00000176165 HGNC:3811 FZD3 gene FZD3 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000104290 ENSG00000104290 HGNC:4041 FZD6 gene FZD6 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000164930 ENSG00000164930 HGNC:4044 GBX2 gene GBX2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000168505 ENSG00000168505 HGNC:4186 GFER gene GFER Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076;Myopathy,mitochondrialprogressive,withcongenitalcataract,hearingloss,anddevelopmentaldelay,613076 False 1 0;0;100 5.73 False ENSG00000127554 ENSG00000127554 HGNC:4236 GFI1 gene GFI1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000162676 ENSG00000162676 HGNC:4237 GJA1 gene GJA1 Expert Monogenic hearing loss Audiology Craniometaphyseal dysplasia, autosomal recessive, OMIM:218400 False 1 0;0;100 5.73 False ENSG00000152661 ENSG00000152661 HGNC:4274 GJA1P1 gene GJA1P1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000176857 ENSG00000176857 HGNC:4275 GJB1 gene GJB1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000169562 ENSG00000169562 HGNC:4283 GJB4 gene GJB4 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000189433 ENSG00000189433 HGNC:4286 GJB5 gene GJB5 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000189280 ENSG00000189280 HGNC:4287 GLI3 gene GLI3 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000106571 ENSG00000106571 HGNC:4319 GOSR2 gene GOSR2 Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal hearing loss, autosomal recessive, MONDO:0019588 37074134 False 1 0;0;100 5.73 False ENSG00000108433 ENSG00000108433 HGNC:4431 GPX1 gene GPX1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000233276 ENSG00000233276 HGNC:4553 GRAP gene GRAP Expert Review Red;Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 114, OMIM:618456 30610177 False 1 0;0;100 5.73 False ENSG00000154016 ENSG00000154016 HGNC:4562 GRID1 gene GRID1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000182771 ENSG00000182771 HGNC:4575 GSTM1 gene GSTM1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000134184 ENSG00000134184 HGNC:4632 GSTP1 gene GSTP1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000084207 ENSG00000084207 HGNC:4638 GSTT1 gene GSTT1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000184674 - HGNC:4641 GUSB gene GUSB Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000169919 ENSG00000169919 HGNC:4696 HAL gene HAL Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000084110 ENSG00000084110 HGNC:4806 HARS gene HARS Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Usher syndrome type 3B, 614504 PMID: 12056811;22279524;22930593;25035493;26072516;2874482;2996334;3464104;7755634 False 1 0;50;50 5.73 True ENSG00000170445 ENSG00000170445 HGNC:4816 HES1 gene HES1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000114315 ENSG00000114315 HGNC:5192 HES5 gene HES5 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000197921 ENSG00000197921 HGNC:19764 HMX2 gene HMX2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000188816 ENSG00000188816 HGNC:5018 HMX3 gene HMX3 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000188620 ENSG00000188620 HGNC:5019 HOXA1 gene HOXA1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000105991 ENSG00000105991 HGNC:5099 HOXB1 gene HOXB1 Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000120094 ENSG00000120094 HGNC:5111 HTRA2 gene HTRA2 Expert Review Red;Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal "3-methylglutaconic aciduria, type VIII 617248" 27208207; 27696117 False 1 0;50;50 5.73 False ENSG00000115317 ENSG00000115317 HGNC:14348 IFT88 gene IFT88 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000032742 ENSG00000032742 HGNC:20606 IGF1 gene IGF1 Expert;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology Insulin-like growth factor I deficiency, OMIM:608747 False 1 0;0;0 5.73 False ENSG00000017427 ENSG00000017427 HGNC:5464 ITGA8 gene ITGA8 Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000077943 ENSG00000077943 HGNC:6144 JAG1 gene JAG1 Expert;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Deafness, congenital heart defects, and posterior embryotoxon, OMIM:617992 False 1 0;0;0 5.73 False ENSG00000101384 ENSG00000101384 HGNC:6188 JAG2 gene JAG2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000184916 ENSG00000184916 HGNC:6189 KCNMA1 gene KCNMA1 Expert;Expert Review Red Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 31152168 False 1 0;0;100 5.73 False ENSG00000156113 ENSG00000156113 HGNC:6284 LAMA2 gene LAMA2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000196569 ENSG00000196569 HGNC:6482 LARGE1 gene LARGE1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000133424 ENSG00000133424 HGNC:6511 LFNG gene LFNG Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000106003 ENSG00000106003 HGNC:6560 LMO4 gene LMO4 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000143013 ENSG00000143013 HGNC:6644 LRIG3 gene LRIG3 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000139263 ENSG00000139263 HGNC:30991 LRP2 gene LRP2 Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000081479 ENSG00000081479 HGNC:6694 MAFB gene MAFB Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000204103 ENSG00000204103 HGNC:6408 MAP1A gene MAP1A Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000166963 ENSG00000166963 HGNC:6835 MCOLN3 gene MCOLN3 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000055732 ENSG00000055732 HGNC:13358 MIR182 gene MIR182 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000207990 ENSG00000207990 HGNC:31553 MIR183 gene MIR183 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000207691 ENSG00000207691 HGNC:31554 MKKS gene MKKS Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000125863 ENSG00000125863 HGNC:7108 MOS gene MOS Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000172680 ENSG00000172680 HGNC:7199 MPV17 gene MPV17 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000115204 ENSG00000115204 HGNC:7224 MSX2 gene MSX2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000120149 ENSG00000120149 HGNC:7392 MTAP gene MTAP Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000099810 ENSG00000099810 HGNC:7413 MYO1C gene MYO1C Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000197879 ENSG00000197879 HGNC:7597 MYO1F gene MYO1F Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000142347 ENSG00000142347 HGNC:7600 NAV2 gene NAV2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000166833 ENSG00000166833 HGNC:15997 NCOA3 gene NCOA3 Literature Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown non-syndromic hearing loss 33326993 False 1 0;0;100 5.73 False ENSG00000124151 ENSG00000124151 HGNC:7670 NDP gene NDP Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000124479 ENSG00000124479 HGNC:7678 NEU1 gene NEU1 Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000204386 ENSG00000204386 HGNC:7758 NEUROD1 gene NEUROD1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000162992 ENSG00000162992 HGNC:7762 NEUROG1 gene NEUROG1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000181965 ENSG00000181965 HGNC:7764 NF1 gene NF1 Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000196712 ENSG00000196712 HGNC:7765 NLRP3 gene NLRP3 Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CINCA syndrome, OMIM:607115;Deafness, autosomal dominant 34, with or without inflammation, OMIM:617772;Muckle-Wells syndrome, OMIM:191900 False 1 0;0;0 5.73 False ENSG00000162711 ENSG00000162711 HGNC:16400 NOTCH1 gene NOTCH1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000148400 ENSG00000148400 HGNC:7881 NOX3 gene NOX3 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000074771 ENSG00000074771 HGNC:7890 NOXO1 gene NOXO1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000196408 ENSG00000196408 HGNC:19404 NR2F1 gene NR2F1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000175745 ENSG00000175745 HGNC:7975 NR4A3 gene NR4A3 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000119508 ENSG00000119508 HGNC:7982 NTF3 gene NTF3 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000185652 ENSG00000185652 HGNC:8023 NTRK2 gene NTRK2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000148053 ENSG00000148053 HGNC:8032 NTRK3 gene NTRK3 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000140538 ENSG00000140538 HGNC:8033 OC90 gene OC90 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000253117 ENSG00000253117 HGNC:8100 OTOP1 gene OTOP1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000163982 ENSG00000163982 HGNC:19656 OTOR gene OTOR Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000125879 ENSG00000125879 HGNC:8517 OTX1 gene OTX1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000115507 ENSG00000115507 HGNC:8521 OTX2 gene OTX2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000165588 ENSG00000165588 HGNC:8522 PET100 gene PET100 Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology Mitochondrial complex IV deficiency, 220110 False 1 0;0;0 5.73 False ENSG00000229833 ENSG00000229833 HGNC:40038 PHEX gene PHEX Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000102174 ENSG00000102174 HGNC:8918 PIK3C2A gene PIK3C2A Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Oculoskeletodental syndrome 618440 31034465 False 1 0;100;0 5.73 False ENSG00000011405 ENSG00000011405 HGNC:8971 PITX2 gene PITX2 Emory Genetics Laboratory Monogenic hearing loss Audiology hearing loss False 1 0;0;100 5.73 False ENSG00000164093 ENSG00000164093 HGNC:9005 PLEK gene PLEK Literature Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Deafness, autosomal dominant 58 MIM#615654" 32337552;19159392 False 1 0;0;0 5.73 False ENSG00000115956 ENSG00000115956 HGNC:9070 PNOC gene PNOC Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000168081 ENSG00000168081 HGNC:9163 POLD1 gene POLD1 Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381 False 1 0;0;100 5.73 False ENSG00000062822 ENSG00000062822 HGNC:9175 POLH gene POLH Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000170734 ENSG00000170734 HGNC:9181 POLR1C gene POLR1C Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000171453 ENSG00000171453 HGNC:20194 POLR1D gene POLR1D Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000186184 ENSG00000186184 HGNC:20422 POU1F1 gene POU1F1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000064835 ENSG00000064835 HGNC:9210 PPP3R1 gene PPP3R1 Literature Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Deafness, autosomal dominant 58 MIM#615654" 32337552;19159392 False 1 0;0;0 5.73 False ENSG00000221823 ENSG00000221823 HGNC:9317 PROP1 gene PROP1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000175325 ENSG00000175325 HGNC:9455 PRRX1 gene PRRX1 Expert Monogenic hearing loss Audiology Agnathia-otocephaly complex, OMIM:202650 False 1 0;0;0 5.73 False ENSG00000116132 ENSG00000116132 HGNC:9142 PRRX2 gene PRRX2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000167157 ENSG00000167157 HGNC:21338 PTK7 gene PTK7 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000112655 ENSG00000112655 HGNC:9618 RARA gene RARA Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000131759 ENSG00000131759 HGNC:9864 RARB gene RARB Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000077092 ENSG00000077092 HGNC:9865 RARG gene RARG Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000172819 ENSG00000172819 HGNC:9866 RASA1 gene RASA1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000145715 ENSG00000145715 HGNC:9871 RPGR gene RPGR Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Retinitis pigmentosa 3, 300029;Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455;Macular degeneration, X-linked atrophic, 300834;Cone-rod dystrophy, X-linked, 1, 304020 PMID: 10094550;10401007;10482958;10699176;10725384;10932196;10958647;10958648;10970770;11702207;11754050;11857109;11875055;11950860;11968081;11978759;11992260;12140192;12160730;12657579;12766038;12920075;14564670;14627685;14691151;15671266;15772089;15914600;16043481;16055928;16387007;16565408;16969763;17195164;17320077;17325176;1733835;17405150;17480003;19815619;19955120;20631154;23150612;24043777;7611300;8673101;8817343;9326322;9350809;9399904;9488274;9855162 False 1 0;33;67 5.73 True ENSG00000156313 ENSG00000156313 HGNC:10295 RPS6KA3 gene RPS6KA3 Emory Genetics Laboratory Monogenic hearing loss Audiology hearing loss False 1 0;0;0 5.73 False ENSG00000177189 ENSG00000177189 HGNC:10432 SARS gene SARS Expert Review Red;Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal ?Neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709 28236339;34570399 False 1 0;100;0 5.73 False ENSG00000031698 ENSG00000031698 HGNC:10537 SCARB2 gene SCARB2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000138760 ENSG00000138760 HGNC:1665 SCD5 gene SCD5 Expert Review Red;Literature Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 79 OMIM:619086;deafness, autosomal dominant 79 MONDO:0033668 31972369 False 1 0;0;100 5.73 False ENSG00000145284 ENSG00000145284 HGNC:21088 SCRIB gene SCRIB Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000180900 ENSG00000180900 HGNC:30377 SDHD gene SDHD Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology Paragangliomas 1, with or without deafness, 168000 False 1 0;0;0 5.73 False ENSG00000204370 ENSG00000204370 HGNC:10683 SIX5 gene SIX5 Expert;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Branchiootorenal syndrome 2, OMIM:610896 PMID:10773454;10802667;10802668;11978764;14704431;15163633;17357085;21280147;7777532;8595416;9158137;9241282;9241283;9949207 False 1 0;25;75 5.73 True ENSG00000177045 ENSG00000177045 HGNC:10891 SLC12A6 gene SLC12A6 Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000140199 ENSG00000140199 HGNC:10914 SLC12A7 gene SLC12A7 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000113504 ENSG00000113504 HGNC:10915 SLC1A3 gene SLC1A3 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000079215 ENSG00000079215 HGNC:10941 SLC29A3 gene SLC29A3 Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782;Hyperpigmentation, Cutaneous, with Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, Hearing Loss, and Hypogonadism PMID: 15701636;16118898;16155931;16650224;17461801;18940313;18947330;19175903;19889517;20140240;20595384;20619369;21178579;21888995;22174130;22238637;22653152;22875837;23530176;9545394 False 1 0;0;100 5.73 True ENSG00000198246 ENSG00000198246 HGNC:23096 SLC30A4 gene SLC30A4 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000104154 ENSG00000104154 HGNC:11015 SLC33A1 gene SLC33A1 Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology Spastic paraplegia 42, autosomal dominant, 612539;Spasticparaplegia42,autosomaldominant,612539Congenitalcataracts,hearingloss,andneurodegeneration,614482 False 1 0;0;0 5.73 False ENSG00000169359 ENSG00000169359 HGNC:95 SLC4A7 gene SLC4A7 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000033867 ENSG00000033867 HGNC:11033 SLC9A1 gene SLC9A1 Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000090020 ENSG00000090020 HGNC:11071 SMS gene SMS Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000102172 ENSG00000102172 HGNC:11123 SOBP gene SOBP Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000112320 ENSG00000112320 HGNC:29256 SOD1 gene SOD1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000142168 ENSG00000142168 HGNC:11179 SOX9 gene SOX9 Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000125398 ENSG00000125398 HGNC:11204 SPINK5 gene SPINK5 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000133710 ENSG00000133710 HGNC:15464 SPRY2 gene SPRY2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000136158 ENSG00000136158 HGNC:11270 ST3GAL5 gene ST3GAL5 Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000115525 ENSG00000115525 HGNC:10872 SYNJ2 gene SYNJ2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000078269 ENSG00000078269 HGNC:11504 TBL1X gene TBL1X Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000101849 ENSG00000101849 HGNC:11585 TBX1 gene TBX1 Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000184058 ENSG00000184058 HGNC:11592 TBX10 gene TBX10 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000167800 ENSG00000167800 HGNC:11593 TCF21 gene TCF21 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000118526 ENSG00000118526 HGNC:11632 TCOF1 gene TCOF1 Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000070814 ENSG00000070814 HGNC:11654 TGFA gene TGFA Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000163235 ENSG00000163235 HGNC:11765 TGFB2 gene TGFB2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000092969 ENSG00000092969 HGNC:11768 THRA gene THRA Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000126351 ENSG00000126351 HGNC:11796 THRB gene THRB Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000151090 ENSG00000151090 HGNC:11799 TJP2 gene TJP2 Emory Genetics Laboratory;Expert;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown hearing loss;Nonsyndromic Hearing Loss, Dominant;Cholestasis, progressive familial intrahepatic 4, 615878;Hypercholanemia, familial, 607748 PMID: 10601346;11018256;12403786;12704386;18172007;18616530;20602916;24614073;25921221;7951235;8824195;24752540 False 1 0;33;67 5.73 True ENSG00000119139 ENSG00000119139 HGNC:11828 TMEM132E gene TMEM132E Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Nonsyndromic Hearing Loss 25331638;31656313 False 1 0;100;0 5.73 False ENSG00000181291 ENSG00000181291 HGNC:26991 TMPRSS5 gene TMPRSS5 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000166682 ENSG00000166682 HGNC:14908 TNFRSF11B gene TNFRSF11B Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000164761 ENSG00000164761 HGNC:11909 TRMU gene TRMU Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology {Deafness, mitochondrial, modifier of}, 580000;{Deafness,mitochondrial,modifierof},580000 False 1 0;0;0 5.73 False ENSG00000100416 ENSG00000100416 HGNC:25481 TRPV4 gene TRPV4 Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000111199 ENSG00000111199 HGNC:18083 TSHR gene TSHR Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000165409 ENSG00000165409 HGNC:12373 TSPEAR gene TSPEAR Expert;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology Deafness, autosomal recessive 98, 614861 26969326;22678063 False 1 0;100;0 5.73 False ENSG00000175894 ENSG00000175894 HGNC:1268 TUB gene TUB Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000166402 ENSG00000166402 HGNC:12406 TYRP1 gene TYRP1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000107165 ENSG00000107165 HGNC:12450 UCN gene UCN Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000163794 ENSG00000163794 HGNC:12516 VANGL2 gene VANGL2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000162738 ENSG00000162738 HGNC:15511 XPC gene XPC Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000154767 ENSG00000154767 HGNC:12816 YAP1 gene YAP1 Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology Coloboma, ocular, 120433Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mentalretardation, 120433 False 1 0;0;0 5.73 False ENSG00000137693 ENSG00000137693 HGNC:16262 ZPR1 gene ZPR1 Expert Review Red;Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal ?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321 29851065 False 1 0;0;100 5.73 False ENSG00000109917 ENSG00000109917 HGNC:13051 ISCA-46297-Loss region ClinGen;Expert Review Green Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Autosomal recessive deafness-22 19888295;31204719;39916398 False 3 100;0;0 5.73 False 16 21558792 21729102 30 60 cnv_loss 16p12.2 recurrent region (distal)(includes OTOA) Loss