OTOG Chromosome 11
Otogelin
Upload your DNA to see your personal genotypes for variants in OTOG.
What This Gene Does
The protein encoded by this gene is a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the anchoring of otoconial membranes and cupulae to the neuroepithelia, and likely in sound stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]
Associated Conditions (12)
Autosomal recessive nonsyndromic hearing loss 18B
Rare genetic deafness
OTOG-related disorder
Meniere disease
Hearing impairment
Nonsyndromic genetic hearing loss
Monogenic hearing loss
Deafness
Hearing loss
autosomal recessive
Intellectual disability
Seizure
Key Variants
RS1000615556
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 18B, Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 18B
Health Risk
RS11024341
Conflicting classifications of pathogenicity
OTOG-related disorder, OTOG-related disorder
Health Risk
RS112634925
Conflicting classifications of pathogenicity
OTOG-related disorder, OTOG-related disorder
Health Risk
RS113688475
Conflicting classifications of pathogenicity
OTOG-related disorder, Autosomal recessive nonsyndromic hearing loss 18B, OTOG-related disorder
Health Risk
RS114417076
Conflicting classifications of pathogenicity
Health Risk
RS117005078
Conflicting classifications of pathogenicity
Meniere disease, Meniere disease
Health Risk
RS117315845
Conflicting classifications of pathogenicity
Meniere disease, Meniere disease
Health Risk
RS1295062471
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
Health Risk
RS1407028917
Conflicting classifications of pathogenicity
Rare genetic deafness, Rare genetic deafness
Health Risk
RS142253169
Conflicting classifications of pathogenicity
OTOG-related disorder, OTOG-related disorder
Health Risk
RS142799217
Conflicting classifications of pathogenicity
Health Risk
RS144972211
Conflicting classifications of pathogenicity
OTOG-related disorder, OTOG-related disorder
Health Risk
All Variants (183)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1853512469 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B |
| RS1854053830 | Health Risk | Likely pathogenic | OTOG-related disorder, OTOG-related disorder |
| RS1854232508 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS2133709057 | Health Risk | Likely pathogenic | — |
| RS2134002520 | Health Risk | Likely pathogenic | — |
| RS2134090994 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B |
| RS2134091591 | Health Risk | Likely pathogenic | Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss |
| RS2478541571 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS2497368023 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS2497379399 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B |
| RS2497419394 | Health Risk | Likely pathogenic | — |
| RS2497504527 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS2497531947 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS2497608352 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS2497622053 | Health Risk | Likely pathogenic | — |
| RS34547529 | Health Risk | Likely pathogenic | Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 18B, OTOG-related disorder |
| RS539684481 | Health Risk | Likely pathogenic | OTOG-related disorder, OTOG-related disorder |
| RS577674003 | Health Risk | Likely pathogenic | — |
| RS750521452 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B |
| RS763848795 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS769161471 | Health Risk | Likely pathogenic | — |
| RS769882405 | Health Risk | Likely pathogenic | — |
| RS934194113 | Health Risk | Likely pathogenic | — |
| RS1029389440 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B |
| RS1038769707 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B |
| RS1051452474 | Health Risk | Pathogenic | — |
| RS1192250435 | Health Risk | Pathogenic | — |
| RS1218807903 | Health Risk | Pathogenic | — |
| RS1228522943 | Health Risk | Pathogenic | — |
| RS1302265167 | Health Risk | Pathogenic | — |
| RS1344999827 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B |
| RS1416960576 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B |
| RS1462915298 | Health Risk | Pathogenic | — |
| RS1462993867 | Health Risk | Pathogenic | — |
| RS1478013002 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B |
| RS1565116526 | Health Risk | Pathogenic | — |
| RS1590039859 | Health Risk | Pathogenic | — |
| RS1853463147 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B |
| RS1853652543 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B |
| RS2133707948 | Health Risk | Pathogenic | — |
| RS2133710981 | Health Risk | Pathogenic | — |
| RS2134007236 | Health Risk | Pathogenic | Hearing impairment, Hearing impairment |
| RS2134009776 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B |
| RS2134025769 | Health Risk | Pathogenic | — |
| RS2134088808 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B |
| RS2497350286 | Health Risk | Pathogenic | — |
| RS2497379479 | Health Risk | Pathogenic | — |
| RS2497427091 | Health Risk | Pathogenic | — |
| RS2497432294 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B |
| RS2497516107 | Health Risk | Pathogenic | — |