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
RS1000615556	Health Risk	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 18B, Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 18B
RS11024341	Health Risk	Conflicting classifications of pathogenicity	OTOG-related disorder, OTOG-related disorder
RS112634925	Health Risk	Conflicting classifications of pathogenicity	OTOG-related disorder, OTOG-related disorder
RS113688475	Health Risk	Conflicting classifications of pathogenicity	OTOG-related disorder, Autosomal recessive nonsyndromic hearing loss 18B, OTOG-related disorder
RS114417076	Health Risk	Conflicting classifications of pathogenicity	—
RS117005078	Health Risk	Conflicting classifications of pathogenicity	Meniere disease, Meniere disease
RS117315845	Health Risk	Conflicting classifications of pathogenicity	Meniere disease, Meniere disease
RS1295062471	Health Risk	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS1407028917	Health Risk	Conflicting classifications of pathogenicity	Rare genetic deafness, Rare genetic deafness
RS142253169	Health Risk	Conflicting classifications of pathogenicity	OTOG-related disorder, OTOG-related disorder
RS142799217	Health Risk	Conflicting classifications of pathogenicity	—
RS144972211	Health Risk	Conflicting classifications of pathogenicity	OTOG-related disorder, OTOG-related disorder
RS145689709	Health Risk	Conflicting classifications of pathogenicity	Meniere disease, OTOG-related disorder, Meniere disease
RS147318012	Health Risk	Conflicting classifications of pathogenicity	—
RS150138913	Health Risk	Conflicting classifications of pathogenicity	—
RS183470913	Health Risk	Conflicting classifications of pathogenicity	OTOG-related disorder, OTOG-related disorder
RS185432248	Health Risk	Conflicting classifications of pathogenicity	OTOG-related disorder, OTOG-related disorder
RS186310325	Health Risk	Conflicting classifications of pathogenicity	—
RS187255209	Health Risk	Conflicting classifications of pathogenicity	—
RS187751015	Health Risk	Conflicting classifications of pathogenicity	OTOG-related disorder, Autosomal recessive nonsyndromic hearing loss 18B, OTOG-related disorder
RS188527711	Health Risk	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS189248390	Health Risk	Conflicting classifications of pathogenicity	OTOG-related disorder, OTOG-related disorder
RS189947237	Health Risk	Conflicting classifications of pathogenicity	—
RS191354103	Health Risk	Conflicting classifications of pathogenicity	—
RS191662816	Health Risk	Conflicting classifications of pathogenicity	OTOG-related disorder, OTOG-related disorder
RS200215464	Health Risk	Conflicting classifications of pathogenicity	—
RS200809116	Health Risk	Conflicting classifications of pathogenicity	—
RS200932405	Health Risk	Conflicting classifications of pathogenicity	—
RS200998174	Health Risk	Conflicting classifications of pathogenicity	—
RS201183725	Health Risk	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 18B, OTOG-related disorder, Autosomal recessive nonsyndromic hearing loss 18B
RS201721923	Health Risk	Conflicting classifications of pathogenicity	OTOG-related disorder, OTOG-related disorder
RS368261417	Health Risk	Conflicting classifications of pathogenicity	—
RS532385451	Health Risk	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS533820347	Health Risk	Conflicting classifications of pathogenicity	OTOG-related disorder, OTOG-related disorder
RS534951317	Health Risk	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS539784682	Health Risk	Conflicting classifications of pathogenicity	—
RS540794663	Health Risk	Conflicting classifications of pathogenicity	OTOG-related disorder, Autosomal recessive nonsyndromic hearing loss 18B, OTOG-related disorder
RS542442173	Health Risk	Conflicting classifications of pathogenicity	—
RS542646349	Health Risk	Conflicting classifications of pathogenicity	—
RS543171228	Health Risk	Conflicting classifications of pathogenicity	—
RS543999548	Health Risk	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS545257884	Health Risk	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 18B, OTOG-related disorder, Autosomal recessive nonsyndromic hearing loss 18B
RS545321215	Health Risk	Conflicting classifications of pathogenicity	OTOG-related disorder, OTOG-related disorder
RS547173007	Health Risk	Conflicting classifications of pathogenicity	OTOG-related disorder, OTOG-related disorder
RS548278514	Health Risk	Conflicting classifications of pathogenicity	—
RS548496846	Health Risk	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS550807341	Health Risk	Conflicting classifications of pathogenicity	OTOG-related disorder, OTOG-related disorder
RS552304627	Health Risk	Conflicting classifications of pathogenicity	Meniere disease, Autosomal recessive nonsyndromic hearing loss 18B, OTOG-related disorder
RS553479177	Health Risk	Conflicting classifications of pathogenicity	—
RS554063575	Health Risk	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B

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