PDF iconPrintable copy of OtoSCOPE® version 9 genes

Gene Hearing Loss Phenotypes OMIM Gene ID Inheritance
ABHD12 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC syndrome) 613599 AR
ACTB Baraitser-Winter Syndrome 1  102630 AD
ACTG1 Deafness, autosomal dominant 20/Deafness, autosomal dominant 26/Baraitser-Winter syndrome 2 102560 AD
ADCY1 Deafness, autosomal recessive 44 103072 AR
ADGRV1 Usher syndrome type 2C 602851 AR
AIFM1 Auditory neuropathy, x-linked 1/Deafness, X-linked 5 300169 XLR
ALMS1 Alström Syndrome 606844 AR
AMMECR1 Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 300195 XLR
ANKH Craniometaphyseal dysplasia 605145 AD
ATP2B2 Deafness, autosomal dominant* 108733 AD
ATP6V0A4 Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 605239 AR
ATP6V1B1 Rental tubular acidosis, distal, 2, with progressive sensorineural hearing loss 192132 AR
ATP6V1B2 Deafness, Congenital, with Onychodystrophy, autosomal dominant (DDOD syndrome) 606939 AD
BCS1L Bjornstad syndrome 603647 AR
BDP1 Deafness, autosomal recessive 112 607012 AR
BSND Deafness, autosomal recessive 73/Bartter syndrome type 4A 606412 AR
BTD Biotinidase deficiency 609019 AR
CABP2 Deafness, autosomal recessive 93 607314 AR
CACNA1D Sinoatrial node dysfunction and deafness (SANDD) 114206 AR
CCDC50 Deafness, autosomal dominant 44 611051 AD
CD164 Deafness, autosomal dominant 66 603356 AD
CDC14A Deafness, autosomal recessive 105/Deafness, autosomal recessive 32/Hearing impairment infertile male syndrome 603504 AR
CDH23 Deafness, autosomal recessive 12/Usher syndrome type 1D 605516 AR
CEACAM16 Deafness, autosomal recessive 4B/Deafness, autosomal recessive 113 614591 AD/AR
CEP78 Cone-rod dystrophy and hearing loss 1 617110 AR
CHD7 CHARGE Syndrome 608892 AD
CHSY1 Temtamy preaxial brachydactyly syndrome 608183 AR
CIB2 Deafness, autosomal recessive 48 605564 AR
CISD2 Wolfram Syndrome 2 611507 AR
CLDN14 Deafness, autosomal recessive 29 605608 AR
CLDN9 Deafness, autosomal recessive* 615799 AR
CLIC5 Deafness, autosomal recessive 103 607293 AR
CLPP Perrault Syndrome 3 601119 AR
CLRN1 Usher Syndrome type 3A 606397 AR
COCH Deafness, autosomal dominant 9/Deafness, autosomal recessive 110 603196 AD/AR
COL11A1 Deafness, autosomal dominant 37/Stickler syndrome type 2/Marshall syndrome 120280 AD
COL11A2 Deafness, autosomal recessive 53/Deafness, autosomal dominant 13/Stickler syndrome type 3/Otospondylomegaepiphyseal dysplasia, autosomal dominant/Otospondylomegaepiphyseal dysplasia, autosomal recessive 120290 AD/AR
COL2A1 Stickler Syndrome 1 120140 AD
COL4A3 Alport syndrome 2, autosomal recessive/Alport syndrome 3, autosomal dominant 120070 AD/AR
COL4A4 Alport syndrome 2, autosomal recessive 120131 AR
COL4A5 Alport syndrome 1, X-linked 303630 XLD
COL4A6 Deafness, X-linked 6 303631 XLR
COL9A1 Stickler Syndrome 4 120210 AR
COL9A2 Stickler Syndrome 5 120260 AR
COL9A3 Stickler Syndrome 120260 AR
CRYM Deafness, autosomal dominant 40 123740 AD
DCAF17 Woodhouse-Sakati Syndrome 612515 AR
DCDC2 Deafness, autosomal recessive 66 605755 AR
DIABLO Deafness, autosomal dominant 64 605219 AD
DIAPH1 Deafness, autosomal dominant 1, with or without thrombocytopenia 602121 AD
DIAPH3 Auditory neuropathy, autosomal dominant, 1 614567 AD
DLX5 Split-hand/foot malformation 1 with sensorineural hearing loss 600028 AD/AR
DMXL2 Deafness, autosomal dominant 71 612186 AD
DNMT1 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant/Neuropathy, hereditary sensory, type 1E (DNMT1-methylopathies) 126375 AD
DSPP Deafness, autosomal dominant 39 with dentinogenesis imperfecta 125485 AD
EDN3 Waardenburg Syndrome type 4B 131242 AD/AR
EDNRB Waardenburg Syndrome type 4A 131244 AD/AR
ELMOD3 Deafness, autosomal recessive 88 615427 AR
EPS8 Deafness, autosomal recessive 102 600206 AR
EPS8L2 Deafness, autosomal recessive 106 614988 AR
ERAL1 Perrault syndrome type 6 607435 AR
ESPN Deafness, autosomal recessive 36 606351 AR
ESRRB Deafness, autosomal recessive 35 602167 AR
EYA1 Branchio-oto-renal syndrome 2 601653 AD
EYA4 Deafness, autosomal dominant 10 603550 AD
FDXR Auditory neuropathy and optic atrophy 103270 AR
FGF3 Deafness, congenital with inner ear agenesis, microtia, and microdontia (Deafness with LAMM) 164950 AR
FGFR1 Pfeiffer syndrome  136350 AD
FGFR2 Pfeiffer syndrome /Apert syndrome/Crouzon syndrome/LADD syndrome  176943 AD
FGFR3 Camptodactyly, Tall Stature, Scoliosis, and Hearing Loss (CATSHLS) syndrome/LADD syndrome/Muenke syndrome 134934 AD
FITM2 Siddiqi syndrome 612029 AR
FOXI1 Pendred Syndrome 601093 AR
GAB1 Deafness, autosomal recessive 26 604439 AR
GATA3 Hypoparathyroidism-deafness-renal disease (HDR syndrome/Barakat syndrome) 131320 AD
GIPC3 Deafness, autosomal recessive 15/Deafness, autosomal recessive 72/Deafness, autosomal recessive 95 608792 AR
GJB2 Deafness, autosomal recessive B1/Deafness, autosomal dominant 3 220290 AD/AR
GJB3 Deafness, autosomal dominant 2B 603324 AD
GJB61  Deafness, autosomal recessive 1B 604418 AR
GPRASP2 X-linked syndromic hearing loss 7 300969 XLR
GPSM2 Chudly-McCullough syndrome 609245 AR
GRAP Deafness, autosomal recessive 114 604330 AR
GREB1L Inner ear malformations and deafness 617782 AD
GRHL2 Deafness, autosomal dominant 28 608576 AD
GRXCR1 Deafness, autosomal recessive 25 613283 AR
GRXCR2 Deafness, autosomal recessive 101 615762 AR
GSDME Deafness, autosomal dominant 5 608798 AD
HARS2 Perrault syndrome type 2 600783 AR
HGF Deafness, autosomal recessive 39 142409 AR
HOMER2 Deafness, autosomal dominant 68 604799 AD
HOXA2 Microtia with or without hearing loss 604685 AD/AR
HOXB1 Facial paresis, hereditary congenital, 3 142968 AR
HSD17B4 Perrault syndrome type 1 601860 AR
IFNLR1 Deafness, autosomal dominant 2C 607404 AD
ILDR1 Deafness, autosomal recessive 42 609739 AR
KARS1 Deafness, autosomal recessive 89 601421 AR
KCNE1 Jervell and Lange-Nielsen syndrome 2 176261 AR
KCNJ10 Pendred Syndrome 602208 AR
KCNQ1 Jervell and Lange-Nielsen syndrome 1 607542 AR
KCNQ4 Deafness, autosomal dominant 2A 603537 AD
KITLG Deafness, autosomal dominant 69/Waardenburg syndrome 2 184745 AD
KMT2D Kabuki syndrome 1 602113 AD
LARS2 Perrault syndrome 4 604544 AR
LHFPL5 Deafness, autosomal recessive 67 609427 AR
LHX3 Pituitary hormone deficiency, combined 600577 AR
LMX1A Deafness, autosomal dominant 7/Deafness, autosomal recessive* 600298 AD/AR
LOXHD1 Deafness, autosomal recessive 77 613072 AR
LOXL3 Stickler Syndrome 607163 AR
LRP2 Donnai-Barrow syndrome 600073 AR
LRTOMT Deafness, autosomal recessive 63 612414 AR
MAN2B1 Mannosidosis, Alpha B, lysosomal 609458 AR
MANBA Mannosidosis, Beta A, lysosomal 609489 AR
MARVELD2 Deafness, autosomal recessive 49 610572 AR
MASP1 3MC syndrome 1 600521 AR
MCM2 Deafness, autosomal dominant 70 116945 AD
MET Deafness, autosomal recessive 97 164860 AR
MGP Keutel syndrome 154870 AR
MIR96 Deafness, autosomal dominant 50 611606 AD
MITF Waardenburg syndrome, type 2A 156845 AD
MPZL2 Deafness, autosomal recessive 111 604873 AR
MSRB3 Deafness, autosomal recessive 74 613719 AR
MT-CO1 Deafness, non-syndromic senorineural, mitochondrial 516030 M
MT-ND1 MELAS/Deafness, nonsyndromic sensorineural, mitochondrial 516000 M
MT-RNR1 Deafness, aminoglycoside-induced 561000 M
MT-TH MERRF-MELAS overlap syndrome/Deafness, non-syndromic sensorineural, mitochondrial 590040 M
MT-TI Cardiomyopathy, familial  hypertrophic, deafness, nonsyndromic sensorineural, mitochondrial  590045 M
MT-TK MERRF/MEERF-MELAS overlap/Cardiomyopathy and deafness/MIDD 590060 M
MT-TL1 MELAS/MERRF 590050 M
MT-TS1 MERRF-MELAS overlap syndrome/Keratoderma, palmoplantar, with deafness/Deafness, nonsyndromic sensorineural, mitochondrial 590080 M
MT-TS2 Cerebellar ataxia, cataract, and diabetes mellitus/MEERF-MELAS overlap syndrome 590085 M
MYH14 Deafness, autosomal dominant 4A 608568 AD
MYH9 Deafness, autosomal dominant 17/Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 160775 AD
MYO15A Deafness, autosomal recessive 3 602666 AR
MYO3A Deafness, autosomal recessive 30/Deafness, autosomal dominant* 606808 AD/AR
MYO6 Deafness, autosomal dominant 22/Deafness, autosomal recessive 37 600970 AD/AR
MYO7A Deafness, autosomal dominant 11/Deafness, autosomal recessive 2/Usher syndrome type 1B 276903 AD/AR
NARS2 Deafness, autosomal recessive 94/Combined oxidative phosphorylation deficiency 24 612803 AR
NDP Norrie disease 300658 XLR
NEFL Charcot-Marie-Tooth disease type 2E/Charcot-Marie-Tooth disease, demyelinating, type 1F/Charcot-Marie-Tooth disease, dominant intermediate G 162280 AD/AR
NF2 Neufibromatosis, type 2 607379 AD
NLRP3 Muckle-Wells syndrome, Neonatal Onset Multisystem Inflammatory Disease (NOMID); Chronic Infantile Neurologic Cutaneous and Articular (CINCA) syndrome (Cryopyrin-associated periodic syndrome (CAPS)) 606416 AD
NOG Stapes ankylosis with broad thumbs and toes 602991 AD
NR2F1 Bosch-Boonstra-Schaaf optic atrophy syndrome 132890 AD
OPA1 Optic atorphy plus syndrome 605290 AD
OSBPL2 Deafness, autosomal dominant 67 606731 AD
OTOA Deafness, autosomal recessive 22 607038 AR
OTOF Deafness, autosomal recessive 9 603681 AR
OTOG Deafness, autosomal recessive 18B 604487 AR
OTOGL Deafness, autosomal recessive 84B 614925 AR
P2RX2 Deafness, autosomal dominant 41 600844 AD
PAX1 Otofaciocervical syndrome 2 167411 AR
PAX3 Waardenburg syndrome type 1/Waardenburg syndrome type 3 606597 AD
PCDH15 Deafness, autosomal recessive 23/Usher Syndrome type 1F 605514 AR
PDE1C Deafness, autosomal dominant 74 602987 AD
PDZD7 Deafness, autosomal recessive 57 612971 AR
PEX1 Heimler syndrome 1/Peroxisome biogenesis disorder 1A/Peroxisome biogenesis disorder 1B (Zellweger spectrum disorders) 602136 AR
PEX26 Peroxisome biogenesis disorder 7A/Peroxisome biogenesis disorder 7B (Zellweger spectrum disorders) 608666 AR
PEX6 Heimler syndrome 2/Peroxisome biogenesis disorder 4A/Peroxisome biogenesis disorder 4B (Zellweger spectrum disorders) 601498 AR
PJVK Deafness, autosomal recessive 59 610219 AR
PLS1 Deafness, autosomal dominant 76 602734 AD
PNPT1 Deafness, autosomal recessive 70 610316 AR
POLR1B Treacher-Collins syndrome 4 602000 AD
POLR1C Treacher-Collins syndrome 3 610060 AR
POLR1D Treacher-Collins syndrome 2 613715 AD
POU3F4 Deafness, X-linked 2 300039 XLR
POU4F3 Deafness, autosomal dominant 15 602460 AD
PPIP5K2 Deafness, autosomal recessive 100 611648 AR
PRPS1 Deafness, X-linked 1/Arts syndrome/Charcot Marie Tooth X-linked recessive, 5/Phosphoribosylpyrophosphate synthetase superactivity (PRPS1-related disorders) 311850 XLR
PTPRQ Deafness, autosomal dominant 73/Deafness, autosomal recessive 84A 603317 AD/AR
RAI1 Smith-Magenis syndrome 607642 AD
RDX Deafness, autosomal recessive 24 179410 AR
REST Deafness, autosomal dominant 27 600571 AD
RIPOR2  Deafness, autosomal dominant 21/Deafness, autosomal recessive 104 611410 AD/AR
ROR1 Deafness, autosomal recessive 108 602336 AR
S1PR2 Deafness, autosomal recessive 68 605111 AR
SEMA3E CHARGE syndrome 608166 AD
SERPINB6 Deafness, autosomal recessive 91 173321 AR
SIX1 Deafness, autosomal dominant 23/Branchio-oto-renal syndrome 3 601205 AD
SIX2 Ptosis, frontonasal dysplasia, and conductive hearing loss 604994 AD
SIX5 Branchio-Oto-Renal Syndrome 600963 AD
SLC17A8 Deafness, autosomal dominant 25 607557 AD
SLC19A2 Thiamine-responsive megaloblastic anemia syndrome 603941 AR
SLC22A4 Deafness, autosomal recessive 60 604190 AR
SLC26A4 Deafness, autosomal recessive B4/Pendred syndrome 605646 AR
SLC26A5 Deafness, autosomal recessive 61 604943 AR
SLC33A1 Congenital cataracts, hearing loss, and neurodegeneration 603690 AR
SLC44A4 Deafness, autosomal dominant 72 606107 AD
SLC4A11 Corneal dystrophy and perceptive deafness (Harboyan syndrome) 610206 AR
SLC52A2 Brown-Vialetto-Van Laere syndrome 2 607882 AR
SLC52A3 Brown-Vialetto-Van Laere syndrome 1 613350 AR
SLITRK6 Deafness and myopia 609681 AR
SMPX Deafness, X-linked 4 300226 XLD
SNAI2 Waardenburg syndrome type 2D 602150 AD
SOX10 Waardenburg syndrome type 2E/4C 602229 AD
SPATA5 Epilepsy, hearing loss, and mental retardation syndrome 613940 AR
SPNS2 Deafness, autosomal recessive 115 612584 AR
STRC Deafness, autosomal recessive 16/Deafness infertility syndrome 606440 AR
SUCLA2 Mitochondrial DNA depletion syndrome 5 603921 AR
SYNE4 Deafness, autosomal recessive 76 615535 AR
TBC1D24 Deafness, autosomal dominant 65/Deafness, autosomal recessive 86/DOORS syndrome 613577 AD/AR
TBL1X Hypothyroidism, congenital, nongoitrous, 8 300196 XLR
TBX1 Velocardiofacial syndrome 602054 AD
TCOF1 Treacher-Collins Syndrome 606847 AD
TECTA Deafness, autosomal dominant 8/Deafness, autosomal dominant 12/Deafness, autosomal recessive 21 602574 AD/AR
TFAP2A Branchiooculofacial syndrome 107580 AD
TIMM8A Mohr-Tranebjaerg Syndrome (DDON syndrome) 300356 XLR
TJP2 Deafness, autosomal dominant 51 607709 AD
TMC1 Deafness, autosomal dominant 36/Deafness, autosomal recessive 7/Deafness, autosomal recessive 11 606706 AD/AR
TMEM126A Optic atrophy 7 with or without auditory neuropathy 612988 AR
TMEM132E Deafness, autosomal recessive 99 616178 AR
TMIE Deafness, autosomal recessive 6 607237 AR
TMPRSS3 Deafness, autosomal recessive 8/Deafness, autosomal recessive 10 605511 AR
TNC Deafness, autosomal dominant 56 187380 AD
TPRN Deafness, autosomal recessive 79 613354 AR
TRIOBP Deafness, autosomal recessive 28 609761 AR
TRRAP Deafness, autosomal dominant* 603015 AD
TSPEAR Deafness, autosomal recessive 98 612920 AR
TUBB4B Leber congenital amaurosis with early-onset deafness 602660 AD
TWNK Perrault syndrome 5 606075 AR
USH1C Deafness, autosomal recessive 18A/Usher syndrome type 1C 605242 AR
USH1G Usher Syndrome type 1G 607696 AR
USH2A Usher Syndrome type 2A 608400 AR
WBP2 Deafness, autosomal recessive 107 606962 AR
WFS1 Deafness, autosomal dominant 6/Deafness, autosomal dominant 14/Deafness, autosomal dominant 38/Wolfram syndrome 1 606201 AD/AR
WHRN Deafness, autosomal recessive 31/Usher syndrome type 2D 607928 AR
       
1Genomic Regions covered for copy number variant analysis only. Additional genomic regions covered for copy number analysis: CATSPER1, CRYL11, OTOAP11, STRCP1
*Locus number not yet assigned, AD=autosomal dominant, AR=autosomal recessive, XLD=X-linked dominant, XLR=X-linked recessive, M=mitochondrial  
Some genes on OtoSCOPE v9 are associated with additional disorders that do not include hearing loss or deafness as a phenotype. These disorders are not included in the list above.