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OTOA

Synonyms
CT108, DFNB22
External resources
Summary
The protein encoded by this gene is specifically expressed in the inner ear, and is located at the interface between the apical surface of the inner ear sensory epithelia and their overlying acellular gels. It is prposed that this protein is involved in the attachment of the inner ear acellular gels to the apical surface of the underlying nonsensory cells. Mutations in this gene are associated with autosomal recessive deafness type 22 (DFNB22). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
3,438
Likely pathogenic
1,448
VUS
15,929
Likely benign
4,687
Benign
5,470

Patient Phenotypes

Proportions of phenotypes among 4868 patients carrying pathogenic or likely pathogenic variants on OTOA gene are displayed below. The following symptoms were found in patients with a variant in OTOA. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.7%
Abnormality of the musculoskeletal system
25.7%
Abnormality of head or neck
21.8%
Abnormality of the cardiovascular system
21.7%
Abnormality of the ear
16.7%
Abnormality of the eye
15.5%
Growth abnormality
13.7%
Abnormality of the genitourinary system
9.9%
Abnormality of metabolism homeostasis
8.5%
Abnormality of limbs
8.1%
Abnormality of the integument
7.9%
Abnormality of the digestive system
6.9%
Abnormality of the immune system
5.5%
Abnormality of blood and blood forming tissues
5.2%
Abnormality of the endocrine system
3.3%
Abnormality of the respiratory system
3.3%
Abnormality of prenatal development or birth
3.2%
Neoplasm
2.2%
Abnormality of the breast
0.7%
Constitutional symptom
0.6%
Abnormal cellular phenotype
0.2%
Abnormality of the voice
0.1%
Abnormality of the thoracic cavity
0%

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