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OTOGL

Synonyms
C12orf64, DFNB84B
External resources
Summary
The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness.

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
49
Likely pathogenic
0
VUS
32,663
Likely benign
4,530
Benign
2,315

Patient phenotypes

Proportions of phenotypes among 48 patients carring pathogenic or likely pathogenic variants on OTOGL gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
35.4%
Abnormality of the eye
27.1%
Abnormality of head or neck
25%
Abnormality of the cardiovascular system
18.8%
Abnormality of the musculoskeletal system
18.8%
Abnormality of the integument
16.7%
Abnormality of the immune system
12.5%
Abnormality of limbs
10.4%
Abnormality of the ear
10.4%
Abnormality of the genitourinary system
10.4%
Growth abnormality
10.4%
Abnormality of blood and blood-forming tissues
8.3%
Neoplasm
8.3%
Abnormality of the digestive system
4.2%
Abnormality of the endocrine system
4.2%
Abnormality of the respiratory system
4.2%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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