GeneHearing Loss PhenotypesOMIM Gene IDInheritance
ABHD12Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC syndrome)613599AR
ACTBBaraitser-Winter syndrome 1 102630AD
ACTG1Deafness, autosomal dominant 20/Deafness, autosomal dominant 26/Baraitser-Winter syndrome 2102560AD
ADCY1Deafness, autosomal recessive 44103072AR
ADGRV1Usher syndrome type 2C602851AR
AIFM1Auditory neuropathy, x-linked 1/Deafness, X-linked 5300169XLR
ALMS1Alström syndrome606844AR
AMMECR1Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300195XLR
ANKHCraniometaphyseal dysplasia605145AD
ATP2B2Deafness, autosomal dominant*108733AD
ATP6V0A4Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss605239AR
ATP6V1B1Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss192132AR
ATP6V1B2Deafness, Congenital, with Onychodystrophy, autosomal dominant (DDOD syndrome)606939AD
BCS1LBjornstad syndrome603647AR
BDP1Deafness, autosomal recessive 112607012AR
BSNDDeafness, autosomal recessive 73/Bartter syndrome type 4A606412AR
BTDBiotinidase deficiency609019AR
CABP2Deafness, autosomal recessive 93607314AR
CACNA1DSinoatrial node dysfunction and deafness (SANDD)114206AR
CCDC50Deafness, autosomal dominant 44611051AD
CD164Deafness, autosomal dominant 66603356AD
CDC14ADeafness, autosomal recessive 105/Deafness, autosomal recessive 32/Hearing impairment infertile male syndrome603504AR
CDH23Deafness, autosomal recessive 12/Usher syndrome type 1D605516AR
CEACAM16Deafness, autosomal dominant 4B/Deafness, autosomal recessive 113614591AD/AR
CEP78Cone-rod dystrophy and hearing loss 1617110AR
CHD7CHARGE syndrome608892AD
CHSY1Temtamy preaxial brachydactyly syndrome608183AR
CIB2Deafness, autosomal recessive 48605564AR
CISD2Wolfram syndrome 2611507AR
CLDN14Deafness, autosomal recessive 29605608AR
CLDN9Deafness, autosomal recessive*615799AR
CLIC5Deafness, autosomal recessive 103607293AR
CLPPPerrault syndrome type 3601119AR
CLRN1Usher syndrome type 3A606397AR
COCHDeafness, autosomal dominant 9/Deafness, autosomal recessive 110603196AD/AR
COL11A1Deafness, autosomal dominant 37/Stickler syndrome type 2/Marshall syndrome120280AD
COL11A2Deafness, autosomal recessive 53/Deafness, autosomal dominant 13/Stickler syndrome type 3/Otospondylomegaepiphyseal dysplasia, autosomal dominant/Otospondylomegaepiphyseal dysplasia, autosomal recessive120290AD/AR
COL2A1Stickler syndrome 1120140AD
COL4A3Alport syndrome 2, autosomal recessive/Alport syndrome 3, autosomal dominant120070AD/AR
COL4A4Alport syndrome 2, autosomal recessive120131AR
COL4A5Alport syndrome 1, X-linked303630XLD
COL4A6Deafness, X-linked 6303631XLR
COL9A1Stickler syndrome 4120210AR
COL9A2Stickler syndrome 5120260AR
COL9A3Stickler syndrome120260AR
CRYMDeafness, autosomal dominant 40123740AD
DCAF17Woodhouse-Sakati syndrome612515AR
DCDC2Deafness, autosomal recessive 66605755AR
DIABLODeafness, autosomal dominant 64605219AD
DIAPH1Deafness, autosomal dominant 1, with or without thrombocytopenia602121AD
DIAPH3Auditory neuropathy, autosomal dominant, 1614567AD
DLX5Split-hand/foot malformation 1 with sensorineural hearing loss600028AD/AR
DMXL2Deafness, autosomal dominant 71612186AD
DNMT1Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant/Neuropathy, hereditary sensory, type 1E (DNMT1-methylopathies)126375AD
DSPPDeafness, autosomal dominant 39 with dentinogenesis imperfecta125485AD
EDN3Waardenburg syndrome type 4B131242AD/AR
EDNRBWaardenburg syndrome type 4A131244AD/AR
ELMOD3Deafness, autosomal recessive 88615427AR
EPS8Deafness, autosomal recessive 102600206AR
EPS8L2Deafness, autosomal recessive 106614988AR
ERAL1Perrault syndrome type 6607435AR
ESPNDeafness, autosomal recessive 36606351AR
ESRRBDeafness, autosomal recessive 35602167AR
EYA1Branchio-oto-renal syndrome 1601653AD
EYA4Deafness, autosomal dominant 10603550AD
FDXRAuditory neuropathy and optic atrophy103270AR
FGF3Deafness, congenital with inner ear agenesis, microtia, and microdontia (Deafness with LAMM)164950AR
FGFR1Pfeiffer syndrome 136350AD
FGFR2Pfeiffer syndrome /Apert syndrome/Crouzon syndrome/LADD syndrome 176943AD
FGFR3Camptodactyly, Tall Stature, Scoliosis, and Hearing Loss (CATSHLS) syndrome/LADD syndrome/Muenke syndrome134934AD
FITM2Siddiqi syndrome612029AR
FOXI1Pendred syndrome601093AR
GAB1Deafness, autosomal recessive 26604439AR
GATA3Hypoparathyroidism-deafness-renal disease (HDR syndrome/Barakat syndrome)131320AD
GIPC3Deafness, autosomal recessive 15/Deafness, autosomal recessive 72/Deafness, autosomal recessive 95608792AR
GJB2Deafness, autosomal recessive B1/Deafness, autosomal dominant 3220290AD/AR
GJB3Deafness, autosomal dominant 2B603324AD
GJB61 Deafness, autosomal recessive 1B604418AR
GPRASP2X-linked syndromic hearing loss 7300969XLR
GPSM2Chudley-McCullough syndrome609245AR
GRAPDeafness, autosomal recessive 114604330AR
GREB1LInner ear malformations and deafness617782AD
GRHL2Deafness, autosomal dominant 28608576AD
GRXCR1Deafness, autosomal recessive 25613283AR
GRXCR2Deafness, autosomal recessive 101615762AR
GSDMEDeafness, autosomal dominant 5608798AD
HARS2Perrault syndrome type 2600783AR
HGFDeafness, autosomal recessive 39142409AR
HOMER2Deafness, autosomal dominant 68604799AD
HOXA2Microtia with or without hearing loss604685AD/AR
HOXB1Facial paresis, hereditary congenital, 3142968AR
HSD17B4Perrault syndrome type 1601860AR
IFNLR1Deafness, autosomal dominant 2C607404AD
ILDR1Deafness, autosomal recessive 42609739AR
KARS1Deafness, autosomal recessive 89601421AR
KCNE1Jervell and Lange-Nielsen syndrome 2176261AR
KCNJ10Pendred syndrome602208AR
KCNQ1Jervell and Lange-Nielsen syndrome 1607542AR
KCNQ4Deafness, autosomal dominant 2A603537AD
KITLGDeafness, autosomal dominant 69/Waardenburg syndrome 2184745AD
KMT2DKabuki syndrome 1602113AD
LARS2Perrault syndrome type 4604544AR
LHFPL5Deafness, autosomal recessive 67609427AR
LHX3Pituitary hormone deficiency, combined600577AR
LMX1ADeafness, autosomal dominant 7/Deafness, autosomal recessive*600298AD/AR
LOXHD1Deafness, autosomal recessive 77613072AR
LOXL3Stickler syndrome607163AR
LRP2Donnai-Barrow syndrome600073AR
LRTOMTDeafness, autosomal recessive 63612414AR
MAN2B1Mannosidosis, Alpha B, lysosomal609458AR
MANBAMannosidosis, Beta A, lysosomal609489AR
MARVELD2Deafness, autosomal recessive 49610572AR
MASP13MC syndrome 1600521AR
MCM2Deafness, autosomal dominant 70116945AD
METDeafness, autosomal recessive 97164860AR
MGPKeutel syndrome154870AR
MIR96Deafness, autosomal dominant 50611606AD
MITFWaardenburg syndrome, type 2A156845AD
MPZL2Deafness, autosomal recessive 111604873AR
MSRB3Deafness, autosomal recessive 74613719AR
MT-CO1Deafness, non-syndromic sensorineural, mitochondrial516030M
MT-ND1MELAS/Deafness, nonsyndromic sensorineural, mitochondrial516000M
MT-RNR1Deafness, aminoglycoside-induced561000M
MT-THMERRF-MELAS overlap syndrome/Deafness, non-syndromic sensorineural, mitochondrial590040M
MT-TICardiomyopathy, familial  hypertrophic, deafness, nonsyndromic sensorineural, mitochondrial 590045M
MT-TKMERRF/MEERF-MELAS overlap/Cardiomyopathy and deafness/MIDD590060M
MT-TL1MELAS/MERRF590050M
MT-TS1MERRF-MELAS overlap syndrome/Keratoderma, palmoplantar, with deafness/Deafness, nonsyndromic sensorineural, mitochondrial590080M
MT-TS2Cerebellar ataxia, cataract, and diabetes mellitus/MEERF-MELAS overlap syndrome590085M
MYH14Deafness, autosomal dominant 4A608568AD
MYH9Deafness, autosomal dominant 17/Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss160775AD
MYO15ADeafness, autosomal recessive 3602666AR
MYO3ADeafness, autosomal recessive 30/Deafness, autosomal dominant*606808AD/AR
MYO6Deafness, autosomal dominant 22/Deafness, autosomal recessive 37600970AD/AR
MYO7ADeafness, autosomal dominant 11/Deafness, autosomal recessive 2/Usher syndrome type 1B276903AD/AR
NARS2Deafness, autosomal recessive 94/Combined oxidative phosphorylation deficiency 24612803AR
NDPNorrie disease300658XLR
NEFLCharcot-Marie-Tooth disease type 2E/Charcot-Marie-Tooth disease, demyelinating, type 1F/Charcot-Marie-Tooth disease, dominant intermediate G162280AD/AR
NF2Neufibromatosis, type 2607379AD
NLRP3Muckle-Wells syndrome, Neonatal Onset Multisystem Inflammatory Disease (NOMID); Chronic Infantile Neurologic Cutaneous and Articular (CINCA) syndrome (Cryopyrin-associated periodic syndrome (CAPS))606416AD
NOGStapes ankylosis with broad thumbs and toes602991AD
NR2F1Bosch-Boonstra-Schaaf optic atrophy syndrome132890AD
OPA1Optic atrophy plus syndrome605290AD
OSBPL2Deafness, autosomal dominant 67606731AD
OTOADeafness, autosomal recessive 22607038AR
OTOFDeafness, autosomal recessive 9/Auditory neuropathy, autosomal recessive 1603681AR
OTOGDeafness, autosomal recessive 18B604487AR
OTOGLDeafness, autosomal recessive 84B614925AR
P2RX2Deafness, autosomal dominant 41600844AD
PAX1Otofaciocervical syndrome 2167411AR
PAX3Waardenburg syndrome type 1/Waardenburg syndrome type 3606597AD/AR
PCDH15Deafness, autosomal recessive 23/Usher Syndrome type 1F605514AR
PDE1CDeafness, autosomal dominant 74602987AD
PDZD7Deafness, autosomal recessive 57612971AR
PEX1Heimler syndrome 1/Peroxisome biogenesis disorder 1A/Peroxisome biogenesis disorder 1B (Zellweger spectrum disorders)602136AR
PEX26Peroxisome biogenesis disorder 7A/Peroxisome biogenesis disorder 7B (Zellweger spectrum disorders)608666AR
PEX6Heimler syndrome 2/Peroxisome biogenesis disorder 4A/Peroxisome biogenesis disorder 4B (Zellweger spectrum disorders)601498AR
PJVKDeafness, autosomal recessive 59610219AR
PLS1Deafness, autosomal dominant 76602734AD
PNPT1Deafness, autosomal recessive 70610316AR
POLR1BTreacher-Collins syndrome 4602000AD
POLR1CTreacher-Collins syndrome 3610060AR
POLR1DTreacher-Collins syndrome 2613715AD
POU3F4Deafness, X-linked 2300039XLR
POU4F3Deafness, autosomal dominant 15602460AD
PPIP5K2Deafness, autosomal recessive 100611648AR
PRPS1Deafness, X-linked 1/Arts syndrome/Charcot Marie Tooth X-linked recessive, 5/ Phosphoribosylpyrophosphate synthetase superactivity (PRPS1-related disorders)311850XLR
PTPRQDeafness, autosomal dominant 73/Deafness, autosomal recessive 84A603317AD/AR
RAI1Smith-Magenis syndrome607642AD
RDXDeafness, autosomal recessive 24179410AR
RESTDeafness, autosomal dominant 27600571AD
RIPOR2 Deafness, autosomal dominant 21/Deafness, autosomal recessive 104611410AD/AR
ROR1Deafness, autosomal recessive 108602336AR
S1PR2Deafness, autosomal recessive 68605111AR
SEMA3ECHARGE syndrome608166AD
SERPINB6Deafness, autosomal recessive 91173321AR
SIX1Deafness, autosomal dominant 23/Branchio-oto-renal syndrome 3601205AD
SIX2Ptosis, frontonasal dysplasia, and conductive hearing loss604994AD
SIX5Branchio-Oto-Renal syndrome 2600963AD
SLC17A8Deafness, autosomal dominant 25607557AD
SLC19A2Thiamine-responsive megaloblastic anemia syndrome603941AR
SLC22A4Deafness, autosomal recessive 60604190AR
SLC26A4Deafness, autosomal recessive 4/Pendred syndrome605646AR
SLC26A5Deafness, autosomal recessive 61604943AR
SLC33A1Congenital cataracts, hearing loss, and neurodegeneration603690AR
SLC44A4Deafness, autosomal dominant 72606107AD
SLC4A11Corneal dystrophy and perceptive deafness (Harboyan syndrome)610206AR
SLC52A2Brown-Vialetto-Van Laere syndrome 2607882AR
SLC52A3Brown-Vialetto-Van Laere syndrome 1613350AR
SLITRK6Deafness and myopia609681AR
SMPXDeafness, X-linked 4300226XLD
SNAI2Waardenburg syndrome type 2D602150AD
SOX10Waardenburg syndrome type 2E/4C602229AD
SPATA5Epilepsy, hearing loss, and mental retardation syndrome613940AR
SPNS2Deafness, autosomal recessive 115612584AR
STRCDeafness, autosomal recessive 16/Deafness infertility syndrome606440AR
SUCLA2Mitochondrial DNA depletion syndrome 5603921AR
SYNE4Deafness, autosomal recessive 76615535AR
TBC1D24Deafness, autosomal dominant 65/Deafness, autosomal recessive 86/DOORS syndrome613577AD/AR
TBL1XHypothyroidism, congenital, nongoitrous, 8300196XLR
TBX1Velocardiofacial syndrome602054AD
TCOF1Treacher-Collins syndrome606847AD
TECTADeafness, autosomal dominant 8/Deafness, autosomal dominant 12/Deafness, autosomal recessive 21602574AD/AR
TFAP2ABranchiooculofacial syndrome107580AD
TIMM8AMohr-Tranebjaerg syndrome (DDON syndrome)300356XLR
TJP2Deafness, autosomal dominant 51607709AD
TMC1Deafness, autosomal dominant 36/Deafness, autosomal recessive 7/Deafness, autosomal recessive 11606706AD/AR
TMEM126AOptic atrophy 7 with or without auditory neuropathy612988AR
TMEM132EDeafness, autosomal recessive 99616178AR
TMIEDeafness, autosomal recessive 6607237AR
TMPRSS3Deafness, autosomal recessive 8/Deafness, autosomal recessive 10605511AR
TNCDeafness, autosomal dominant 56187380AD
TPRNDeafness, autosomal recessive 79613354AR
TRIOBPDeafness, autosomal recessive 28609761AR
TRRAPDeafness, autosomal dominant*603015AD
TSPEARDeafness, autosomal recessive 98612920AR
TUBB4BLeber congenital amaurosis with early-onset deafness602660AD
TWNKPerrault syndrome type 5606075AR
USH1CDeafness, autosomal recessive 18A/Usher syndrome type 1C605242AR
USH1GUsher syndrome type 1G607696AR
USH2AUsher syndrome type 2A608400AR
WBP2Deafness, autosomal recessive 107606962AR
WFS1Deafness, autosomal dominant 6/Deafness, autosomal dominant 14/Deafness, autosomal dominant 38/Wolfram syndrome 1606201AD/AR
WHRNDeafness, autosomal recessive 31/Usher syndrome type 2D607928AR
1Genomic Regions covered for copy number variant analysis only. Additional genomic regions covered for copy number analysis: CATSPER21, CRYL11, OTOAP11, STRCP11 
*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