OTOG Chromosome 11

Otogelin

183 variants 183 Health Risk

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

Health Risk

RS112634925

Conflicting classifications of pathogenicity

Health Risk

RS113688475

Conflicting classifications of pathogenicity

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

Health Risk

RS142799217

Conflicting classifications of pathogenicity

Health Risk

RS144972211

Conflicting classifications of pathogenicity

Health Risk

All Variants (183)

RSID	Category	Clinical Significance	Conditions
RS2497536470	Health Risk	Pathogenic	—
RS2497546422	Health Risk	Pathogenic	—
RS2497553300	Health Risk	Pathogenic	Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS2497597301	Health Risk	Pathogenic	—
RS397514607	Health Risk	Pathogenic	Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS397514608	Health Risk	Pathogenic	Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS529043916	Health Risk	Pathogenic	—
RS574007567	Health Risk	Pathogenic	Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS757188953	Health Risk	Pathogenic	Monogenic hearing loss, Monogenic hearing loss
RS761287044	Health Risk	Pathogenic	OTOG-related disorder, OTOG-related disorder
RS766465200	Health Risk	Pathogenic	—
RS866476223	Health Risk	Pathogenic	Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS888280826	Health Risk	Pathogenic	Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS923873445	Health Risk	Pathogenic	—
RS930688767	Health Risk	Pathogenic	—
RS982536669	Health Risk	Pathogenic	Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS1157646266	Health Risk	Pathogenic/Likely pathogenic	Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 18B, OTOG-related disorder
RS1234811014	Health Risk	Pathogenic/Likely pathogenic	Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 18B, Rare genetic deafness
RS1253030003	Health Risk	Pathogenic/Likely pathogenic	—
RS1270911408	Health Risk	Pathogenic/Likely pathogenic	—
RS1319111806	Health Risk	Pathogenic/Likely pathogenic	—
RS1393191930	Health Risk	Pathogenic/Likely pathogenic	—
RS1565127413	Health Risk	Pathogenic/Likely pathogenic	Deafness, Hearing loss, autosomal recessive
RS1851981434	Health Risk	Pathogenic/Likely pathogenic	Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 18B, Rare genetic deafness
RS530874854	Health Risk	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS554847663	Health Risk	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 18B, Rare genetic deafness, Intellectual disability
RS560339163	Health Risk	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS751369871	Health Risk	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 18B, OTOG-related disorder, Rare genetic deafness
RS772430523	Health Risk	Pathogenic/Likely pathogenic	Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 18B, Rare genetic deafness
RS778222536	Health Risk	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 18B, Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 18B
RS876657656	Health Risk	Pathogenic/Likely pathogenic	Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 18B, Rare genetic deafness
RS876657657	Health Risk	Pathogenic/Likely pathogenic	Rare genetic deafness, Rare genetic deafness
RS897822685	Health Risk	Pathogenic/Likely pathogenic	Rare genetic deafness, Rare genetic deafness

« Prev 1 2 3 4