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 BMP4 gene BMP4 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia, Syndromic 6, 607932;Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly False 3 33;0;67 1.37 False ENSG00000125378 ENSG00000125378 HGNC:1071 CDC6 gene CDC6 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 5, OMIM:613805;Bilateral Microtia 21358632;10629059;11477602;12384698;12384699;15496876;16572177;8990175;9520412;9566895 False 3 100;0;0 1.37 False ENSG00000094804 ENSG00000094804 HGNC:1744 CDT1 gene CDT1 Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 4, OMIM:613804;Short stature, small head size, the ears may be low-set or rotated backward (+/-microtia). Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge 21358632;10898791;11125146;11477602;11992493;12815436;15286659;21358631;21358632;22645314;213586;11477602;21358631;15286659 False 3 100;0;0 1.37 False ENSG00000167513 ENSG00000167513 HGNC:24576 CHD7 gene CHD7 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bilateral Microtia;214800;CHARGE syndrome, 214800;Bilateral Microtia, 214800 15300250;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 50;0;50 1.37 False ENSG00000171316 ENSG00000171316 HGNC:20626 DAP3 gene DAP3 Expert Review Green;Literature Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 7, OMIM:621101 39701103 False 3 100;0;0 1.37 False Other ENSG00000132676 ENSG00000132676 HGNC:2673 DHODH gene DHODH Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Bilateral Microtia;263750;Postaxial acrofacial dystostosis (POADS);Miller syndrome, 263750;Causes Miller syndrome with bilateral microtia;syndromic features;Miller syndrome;postaxial acrofacial dysostosis;raniofacial abnormalities include underdevelopment of the cheekbones (malar hypoplasia);an abnormally small lower jaw (micrognathia);incomplete closure of the roof of the mouth (cleft palate);small, protruding, cup-shaped ears;and/or absence of tissue (colobomas) from the lower eyelids 19915526;1446837;19915526;20220176;21430780;8211381;22692683;21851494;https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3870197/ False 3 67;0;33 1.37 False ENSG00000102967 ENSG00000102967 HGNC:2867 EDNRA gene EDNRA Expert Review;Expert Review Green;Radboud University Medical Center, Nijmegen Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mandibulofacial dysostosis with alopecia, 616367;mandibulofacial dysostosis;alopecia;bilateral microtia 25772936;11711438;9449664;16116593;20583178 False 3 100;0;0 1.37 False Other - please provide details in the comments ENSG00000151617 ENSG00000151617 HGNC:3179 EFTUD2 gene EFTUD2 Eligibility statement exclusion criteria;Eligibility statement prior genetic testing;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bilateral Microtia;610536;Mandibulofacial dysostosis, Guion-Almeida type, 610536;Treacher Collins-like syndrome (mandibulofacial dysostosis) with microcephaly, microtia and malformations 22305528;16760738;19334086;22305528;22541558;23188108;7584026;9233818 False 3 100;0;0 1.37 False ENSG00000108883 ENSG00000108883 HGNC:30858 EIF4A3 gene EIF4A3 Expert Review;Expert Review Green;Radboud University Medical Center, Nijmegen Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Robin sequence with cleft mandible and limb abnormalities, 268305;Richieri-Costa-Pereira syndrome;Microtia;short stature;Robin sequence;cleft mandible;hand anomalies;club foot 24360810;9284755;9449664 False 3 100;0;0 1.37 False ENSG00000141543 ENSG00000141543 HGNC:18683 EYA1 gene EYA1 Eligibility statement exclusion criteria;Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bilateral Microtia;pre auricular pits;113650;Familial hemifacial microsomia with preauricular pits;Branchiootorenal syndrome 1, with or without cataracts, 113650;Hearing loss panel;Otofaciocervical Syndrome;Branchio-oto-renal syndrome which includes microtia 9020840;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 False 3 100;0;0 1.37 False ENSG00000104313 ENSG00000104313 HGNC:3519 FGF10 gene FGF10 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bilateral Microtia;149730;LADD syndrome, 149730;lacrimo auriculo dento digital syndrome;syndromic features 16630169;10984614;11702954;11923311;11959839;15199404;15260994;15654336;16501574;17213838;17259985;18583612;20035084;21108385;21742743;24626928;9287324;9784490;9916808;9988217 False 3 67;0;33 1.37 False ENSG00000070193 ENSG00000070193 HGNC:3666 FGF3 gene FGF3 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal 610706;Hearing loss panel;Deafness, congenital with inner ear agenesis, microtia and microdontia, 610706;labyrinthine aplasia, microdontia, microtia 17236138;15809038;16329133;17236138;17656375;17906623;18435799;1846319;18583612;18701883;1922362;21108385;21480479;2470007;3023852;3574458;17656375;18701883;21480479 False 3 100;0;0 1.37 False ENSG00000186895 ENSG00000186895 HGNC:3681 FGFR2 gene FGFR2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Bilateral Microtia;Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410;Apert syndrome 101200;Beare-Stevenson cutis gyrata syndrome 123790;Bent bone dysplasia syndrome 614592;Craniofacial-skeletal-dermatologic dysplasia, Pfeiffer syndrome 101600;Crouzon syndrome 123500;LADD syndrome 16501574 False 3 67;0;33 1.37 False ENSG00000066468 ENSG00000066468 HGNC:3689 FGFR3 gene FGFR3 Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bilateral Microtia;149730;LADD syndrome (lacrimo auriculo dento digital);syndromic features;Achondroplasia 100800;Crouzon syndrome with acanthosis nigricans 16501574 False 3 50;0;50 1.37 False ENSG00000068078 ENSG00000068078 HGNC:3690 FOXI3 gene FOXI3 Expert list;Expert Review Green;Literature Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Bilateral Microtia;Congenital aural atresia 36260083;25655429;18787161;24650709 False 3 20;40;40 1.37 False ENSG00000214336 ENSG00000214336 HGNC:35123 FRAS1 gene FRAS1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Bilateral Microtia;219000;Fraser syndrome 219000 12766769;12766770;15623520;16880404;16894541;17163535;18671281;18787044;8055142 False 3 33;0;67 1.37 False ENSG00000138759 ENSG00000138759 HGNC:19185 FREM2 gene FREM2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Bilateral Microtia;248450;Causes Fraser syndrome with microtia;syndromic features;Fraser syndrome 219000 15838507 False 3 33;0;67 1.37 False ENSG00000150893 ENSG00000150893 HGNC:25396 GNAI3 gene GNAI3 Expert list;Expert Review;Expert Review Green;Radboud University Medical Center, Nijmegen Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bilateral Microtia;602483;Causes AURICULOCONDYLAR syndrome with microtia;syndromic features;Auriculocondylar syndrome 1;Dysgnathia complex 22560091;11102934;23315542;1302014;20733479;22560091;23315542;2834384;2902634;7698751 False 3 67;0;33 1.37 False ENSG00000065135 ENSG00000065135 HGNC:4387 GRIP1 gene GRIP1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Bilateral Microtia;219000;Fraser syndrome;syndromic features;Fraser syndrome 219000;Causes Fraser syndrome;syndromic features 22510445;10197531;11983858;11986669;12052960;14730302;15895086;16880404 False 3 33;33;33 1.37 False ENSG00000155974 ENSG00000155974 HGNC:18708 GSC gene GSC Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Bilateral Microtia;602471;Short stature,auditory canal atresia,mandibular hypoplasia,skeletal abnormalities,602471;Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities;Causes SAMS syndrome;syndromic features 24290375;9475592;12116210;1677215;1684739;24290375;7555718;7916327;8597641;9144415 False 3 67;0;33 1.37 False ENSG00000133937 ENSG00000133937 HGNC:4612 HMX1 gene HMX1 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Bilateral Microtia;612109;Oculoauricular syndrome;syndromic features;Oculoauricular syndrome 612109 18423520;25574057;25574057;19379485;10779178;1360670;9337406 False 3 67;0;33 1.37 False ENSG00000215612 ENSG00000215612 HGNC:5017 HOXA2 gene HOXA2 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Microtia, Hearing Impairment, and Cleft Palate;612290;Microtia with or without hearing impairment (AD) 612290 AD, AR;Microtia, hearing impairment, and cleft palate (AR) 612290;dominant bilateral microtia;recessive family also reported 18394579;23775976;10230789;1358459;16902088;9367425;27503514 False 3 100;0;0 1.37 False ENSG00000105996 ENSG00000105996 HGNC:5103 HSPA9 gene HSPA9 Expert Review;Expert Review Green Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Even-plus syndrome, 616854;EPIPHYSEAL AND VERTEBRAL DYSPLASIA, MICROTIA, AND FLAT NOSE, PLUS ASSOCIATED MALFORMATIONS 26598328 False 3 0;100;0 1.37 False ENSG00000113013 ENSG00000113013 HGNC:5244 KDM6A gene KDM6A Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Bilateral Microtia;Kabuki syndrome 2 False 3 25;0;75 1.37 False ENSG00000147050 ENSG00000147050 HGNC:12637 KIAA0391 gene KIAA0391 Expert Review Green;Literature Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 54, OMIM:619737 34715011;37558808 False 3 100;0;0 1.37 False ENSG00000100890 ENSG00000100890 HGNC:19958 KMT2D gene KMT2D Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bilateral Microtia;Kabuki syndrome 1 147920 11782551;12473749;20711175;21163964;21607748;21671394;21796119;22126750;23913813;24633898;25972376;26331536;9247308 False 3 25;0;75 1.37 False ENSG00000167548 ENSG00000167548 HGNC:7133 OFD1 gene OFD1 Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Orofaciodigital syndrome type 1, 311200 False 3 0;0;0 1.37 False ENSG00000046651 ENSG00000046651 HGNC:2567 ORC1 gene ORC1 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 1, OMIM:224690;Bilateral Microtia 21358632;11477602;11931757;14564153;17761879;17761880;19197067;21358631;21358632;21358633;22398447;7502077;819054;8884289;8943353 False 3 67;33;0 1.37 False ENSG00000085840 ENSG00000085840 HGNC:8487 ORC4 gene ORC4 Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 2, OMIM:613800;Bilateral Microtia 21358631;11477602;21358632;9353276;9691185 False 3 67;33;0 1.37 False ENSG00000115947 ENSG00000115947 HGNC:8490 ORC6 gene ORC6 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 3, OMIM:613803;Bilateral Microtia 10945994;12169736;21358632;7710253 False 3 67;33;0 1.37 False ENSG00000091651 ENSG00000091651 HGNC:17151 OTX2 gene OTX2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bilateral Microtia;Microphthalmia, syndromic 5;Agnathia-holoprosencephaly-situs inversus syndrome;Otocephaly-Dysgnathia Complex 26155468;24167467;23610864;23055936;22577225;10490024;10490025;10935548;12663655;1353865;14625556;15557469;15846561;16256739;16712695;18385377;18628516;18728160;18781617;18854396;19956411;19965921;20396904;22577225;24167467;25293953;7901323;7959790;8826432;9174161 False 3 33;0;67 1.37 False ENSG00000165588 ENSG00000165588 HGNC:8522 PLCB4 gene PLCB4 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bilateral Microtia;614669;Causes AURICULOCONDYLAR syndrome with microtia;syndromic features;Auriculocondylar syndrome 2 23315542;12640460;16114046;18314001;18680186;18686566;19152421;20733479;22051675;22286465;22560091;23315542;8530101;9305844;18314001;23315542;22286465;20733479;22560091 False 3 67;0;33 1.37 False ENSG00000101333 ENSG00000101333 HGNC:9059 POLR1A gene POLR1A Expert Review Green Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 3 afftected individuals with Cincinnati type mandibulofacial dysostosis, 616462. 1 de novo, inherited from an unaffected parent and 1 with parental status unknown;Acrofacial dysostosis, Cincinnati type, 616462;Microtia/ anotia;acrofacial dysostosis;micrognathia 25913037;25434003 False 3 100;0;0 1.37 False ENSG00000068654 ENSG00000068654 HGNC:17264 POLR1C gene POLR1C Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Bilateral Microtia;248390;Causes Treacher Collins syndrome which is highly variable;Treacher Collins syndrome 3 11013442;12391170;21131976;26151409;9653160 False 3 100;0;0 1.37 False ENSG00000171453 ENSG00000171453 HGNC:20194 POLR1D gene POLR1D Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bilateral Microtia;613717;Treacher Collins syndorme which is highly variable;Treacher Collins syndrome 2 21131976;24603435;8955128 False 3 100;0;0 1.37 False ENSG00000186184 ENSG00000186184 HGNC:20422 SALL1 gene SALL1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bilateral Microtia;107480;Familial hemifacial microsomia with abnormal thumbs or anal anomaly;Bilateral Microtia, 107480;Townes-Brocks Syndrome, 107480;Hearing loss panel 17431915;8669439;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 1.37 False ENSG00000103449 ENSG00000103449 HGNC:10524 SALL4 gene SALL4 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial hemifacial microsomia with abnormal thumbs;hearing loss panel;Duane-radial ray syndrome, 607323 ;SALL4-Related Spectrum Dis False 3 100;0;0 1.37 False ENSG00000101115 ENSG00000101115 HGNC:15924 SF3B4 gene SF3B4 Eligibility statement prior genetic testing;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bilateral Microtia;154400;Acrofacial dysostosis 1,Nager type,154400;NAGER ACROFACIAL DYSOSTOSIS;SYNDROMIC FEATURES 22541558;23568615;7958871;24003905 False 3 67;0;33 1.37 False ENSG00000143368 ENSG00000143368 HGNC:10771 SIX1 gene SIX1 Eligibility statement exclusion criteria;Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bilateral Microtia;pre auricular pits;608389;Deafness, autosomal dominant 23, 605192;Brachiootic syndrome 3, 608389;Hearing loss panel;Deafness,autosomal dominant 23, 605192;Non-syndromic hearing loss;Branchio-oto-renal syndrome 18330911;15141091;10512683;10773454;10777717;11262400;11734542;12368906;12843324;14628042;14704789;15141091;15226428;16670092;17637804;19389353;19726883;19726885;21700001;22267199;7720577;8617500;9770533 False 3 50;0;50 1.37 False ENSG00000126778 ENSG00000126778 HGNC:10887 SLC26A4 gene SLC26A4 Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Deafness,autosomal recessive 4,with enlarged vestibular aqueduct,600791 False 3 0;0;0 1.37 False ENSG00000091137 ENSG00000091137 HGNC:8818 SOX10 gene SOX10 Eligibility statement prior genetic testing;Expert Review Green Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vestibular/semicircular canal dysplasia;PCWH syndrome;Waardenburg syndrome, type 2E, with or without neurologic involvement;Waardenburg syndrome, type 4C False 3 0;0;0 1.37 False ENSG00000100146 ENSG00000100146 HGNC:11190 TCOF1 gene TCOF1 Eligibility statement prior genetic testing;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bilateral Microtia;154500;Familial hemifacial microsomia with bilateral microtia;Treacher Collins syndrome 1, 154500;Treacher Collins syndrome which can be highly variable 9096354;10545604;11013442;1110452;11471057;11734546;12114482;12210332;14598341;15019983;15039977;15214011;15249688;15930015;16465596;16938878;19050407;20106873;22317976;24108658;26399832;4061487;8563749;8875242;8894686;9042910;9096354;9158147;9736782 False 3 50;0;50 1.37 False ENSG00000070814 ENSG00000070814 HGNC:11654 TFAP2A gene TFAP2A Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bilateral Microtia;Branchiooculofacial syndrome 113620;External and middle ear anomalies;branchial cleft sinus defects;ocular anomalies 9761567;10071194;15734008;1619642;19685247;6829601;2354548;10507730;10767004;11406275;12843180;15930016;1619642;18423521;1916817;19206157;19685247;20150232;20358615;23382213;24097348;3040262;3063603;7747785;8190633;8321221;8622765;8622766;8661133;8824807 False 3 67;0;33 1.37 False ENSG00000137203 ENSG00000137203 HGNC:11742 GDF6 gene GDF6 Expert list;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bilateral Microtia;Klippel-Feil syndrome 1, autosomal dominant 118100 False 2 0;25;75 1.37 False ENSG00000156466 ENSG00000156466 HGNC:4221 RPS28 gene RPS28 Expert Review;Expert Review Amber Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond Blackfan anaemia with mandibulofacial dysostosis, 606164; two cases only described to date;Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164 PMID 24942156 False 2 0;0;100 1.37 False ENSG00000233927 ENSG00000233927 HGNC:10418 BMP5 gene BMP5 Expert list;Expert Review Red;Literature Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bilateral Microtia;Congenital microtia False 1 0;50;50 1.37 False ENSG00000112175 ENSG00000112175 HGNC:1072 DACT1 gene DACT1 Literature;Other Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Townes-Brocks syndrome 2,617466; TBS2 28054444;22610794;19701191 False 1 0;0;100 1.37 False ENSG00000165617 ENSG00000165617 HGNC:17748 EVC gene EVC Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bilateral Microtia;Weyers acrodental dysostosis False 1 0;0;100 1.37 False ENSG00000072840 ENSG00000072840 HGNC:3497 FOXI1 gene FOXI1 Expert Review Red;Radboud University Medical Center, Nijmegen Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Enlarged vestibular aqueduct, 600791 False 1 0;100;0 1.37 False ENSG00000168269 ENSG00000168269 HGNC:3815 LEMD3 gene LEMD3 Expert list;Expert Review Red Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bilateral Microtia;Buschke-Ollendorff syndrome 166700, Osteopoikilosis 166700;Melorheostosis with osteopoikilosis 155950 PMID:10671519;12684533;12749062;15489854;15601644;17087626;17223882;19438932;19720741;9295073 False 1 0;20;80 1.37 False ENSG00000174106 ENSG00000174106 HGNC:28887 NKX3-2 gene NKX3-2 Expert list;Expert Review Red Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal Bilateral Microtia;Spondylo-megaepiphyseal-metaphyseal dysplasia 11702952;14973294;16407370;20004766;9256352;9344671;9426254 False 1 0;25;75 1.37 False ENSG00000109705 ENSG00000109705 HGNC:951 PORCN gene PORCN Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Focal Dermal Hypoplasia, 305600 False 1 0;0;100 1.37 False ENSG00000102312 ENSG00000102312 HGNC:17652 SIX5 gene SIX5 Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiootorenal syndrome 2, OMIM:610896 10773454;10802667;10802668;11978764;14704431;15163633;17357085;21280147;7777532;8595416;9158137;9241282;9241283;9949207 False 1 25;0;75 1.37 False ENSG00000177045 ENSG00000177045 HGNC:10891 TWSG1 gene TWSG1 Expert list;Expert Review Red Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders Unknown Bilateral Microtia 10866189;11260715;11260716;11260717 False 1 0;0;100 1.37 False ENSG00000128791 ENSG00000128791 HGNC:12429 WIF1 gene WIF1 Expert list;Expert Review Red Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders Unknown Bilateral Microtia False 1 0;0;100 1.37 False ENSG00000156076 ENSG00000156076 HGNC:18081 ISCA-37393-Gain region Expert Review Green;ClinGen Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PMID 22890013: variable phenotype including developmental delay, ocular coloboma, preauricular tags/pits, cleft palate, skeletal defects, heart defects, urogenital defect, anal defect, hearing loss, clinodactyly of fifth fingers, umbilical hernia, accessory spleen, strabismus, shortening of the fifth finger. PMID 22495764: Inter and intra individual variability of phenotype, mosaic. PMID 11693792: preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome;115470 11693792;22890013;22495764 False 3 0;0;0 1.37 False 22 16912063 18109094 3 60 cnv_gain 22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) Gain ISCA-37396-Loss region Expert Review Green;Expert list Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Chromosome 15q24 deletion syndrome, 613406;PMID: 22180641 intellectual disability, growth retardation, unusual facial morphology;developmental delay, severe speech problems;PMID:19557438 Developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, characteristic facial features;PMID:614294 Developmental delay, loose connective tissue, digital and genital anomalies, distinct facial gestalt, congenital diaphragmatic hernia 22180641;19557438;19233321 False 3 100;0;0 1.37 False 15 72671374 75680568 3 60 cnv_loss 15q24 recurrent region (A-D) (includes SIN3A) Loss ISCA-37501-Loss region Expert Review Green;Expert list Deafness and congenital structural abnormalities Deafness and congenital structural abnormalities Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Chromosome 17q23.1-q23.2 deletion syndrome, 613355;PMID:20206336 mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, hand, foot and limb abnormalities;PMID: 22052739 Developmental delay, heart defects, microcephaly, postnatal growth retardation, hand, foot and limb abnormalities, sensorineural hearing loss 20206336;22052739 False 3 100;0;0 1.37 False 17 60035641 62198448 3 60 cnv_loss 17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss