OTOG Chromosome 11

Otogelin

183 variants 183 Health Risk

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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
RS555068328	Health Risk	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS559512010	Health Risk	Conflicting classifications of pathogenicity	—
RS56359117	Health Risk	Conflicting classifications of pathogenicity	OTOG-related disorder, OTOG-related disorder
RS564595203	Health Risk	Conflicting classifications of pathogenicity	—
RS565665118	Health Risk	Conflicting classifications of pathogenicity	—
RS572886375	Health Risk	Conflicting classifications of pathogenicity	OTOG-related disorder, OTOG-related disorder
RS573071858	Health Risk	Conflicting classifications of pathogenicity	—
RS61734125	Health Risk	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS61734214	Health Risk	Conflicting classifications of pathogenicity	Meniere disease, Meniere disease
RS61736002	Health Risk	Conflicting classifications of pathogenicity	Meniere disease, Autosomal recessive nonsyndromic hearing loss 18B, OTOG-related disorder
RS61978648	Health Risk	Conflicting classifications of pathogenicity	Meniere disease, OTOG-related disorder, Meniere disease
RS748088599	Health Risk	Conflicting classifications of pathogenicity	—
RS749205983	Health Risk	Conflicting classifications of pathogenicity	—
RS754883697	Health Risk	Conflicting classifications of pathogenicity	—
RS758489218	Health Risk	Conflicting classifications of pathogenicity	—
RS764159927	Health Risk	Conflicting classifications of pathogenicity	—
RS76461792	Health Risk	Conflicting classifications of pathogenicity	Meniere disease, Meniere disease
RS765790706	Health Risk	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS766229978	Health Risk	Conflicting classifications of pathogenicity	—
RS769211682	Health Risk	Conflicting classifications of pathogenicity	—
RS770039471	Health Risk	Conflicting classifications of pathogenicity	OTOG-related disorder, OTOG-related disorder
RS770222544	Health Risk	Conflicting classifications of pathogenicity	—
RS776961395	Health Risk	Conflicting classifications of pathogenicity	—
RS777325144	Health Risk	Conflicting classifications of pathogenicity	—
RS777809121	Health Risk	Conflicting classifications of pathogenicity	—
RS778687487	Health Risk	Conflicting classifications of pathogenicity	—
RS779238030	Health Risk	Conflicting classifications of pathogenicity	—
RS7936354	Health Risk	Conflicting classifications of pathogenicity	Meniere disease, Meniere disease
RS876657555	Health Risk	Conflicting classifications of pathogenicity	—
RS876657558	Health Risk	Conflicting classifications of pathogenicity	—
RS876657936	Health Risk	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 18B, OTOG-related disorder, Autosomal recessive nonsyndromic hearing loss 18B
RS911853347	Health Risk	Conflicting classifications of pathogenicity	OTOG-related disorder, OTOG-related disorder
RS937557181	Health Risk	Conflicting classifications of pathogenicity	—
RS973728066	Health Risk	Conflicting classifications of pathogenicity	—
RS975490342	Health Risk	Conflicting classifications of pathogenicity	—
RS1051388148	Health Risk	Likely pathogenic	Hearing impairment, Hearing impairment
RS1190872154	Health Risk	Likely pathogenic	—
RS1193023501	Health Risk	Likely pathogenic	Rare genetic deafness, Rare genetic deafness
RS1203130034	Health Risk	Likely pathogenic	—
RS1225726040	Health Risk	Likely pathogenic	OTOG-related disorder, OTOG-related disorder
RS1243348441	Health Risk	Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS1263866285	Health Risk	Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS1354270268	Health Risk	Likely pathogenic	—
RS1374254106	Health Risk	Likely pathogenic	—
RS1401870617	Health Risk	Likely pathogenic	Rare genetic deafness, Rare genetic deafness
RS1449542511	Health Risk	Likely pathogenic	—
RS1476485007	Health Risk	Likely pathogenic	OTOG-related disorder, OTOG-related disorder
RS1478750141	Health Risk	Likely pathogenic	—
RS1565129771	Health Risk	Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS1852533572	Health Risk	Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B

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