
PDF of Otoscope version 9 genes
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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 | Renal 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 dominant 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 type 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 1 | 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 | Chudley-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 type 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 atrophy plus syndrome | 605290 | AD | ||||||||||||
OSBPL2 | Deafness, autosomal dominant 67 | 606731 | AD | ||||||||||||
OTOA | Deafness, autosomal recessive 22 | 607038 | AR | ||||||||||||
OTOF | Deafness, autosomal recessive 9/Auditory neuropathy, autosomal recessive 1 | 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/AR | ||||||||||||
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 2 | 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 4/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 type 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 | ||||||||||||
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