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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

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
103
Likely pathogenic
1
VUS
48,449
Likely benign
14,674
Benign
2,055

Patient phenotypes

Proportions of phenotypes among 98 patients carrying pathogenic or likely pathogenic variants on OTOGL gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
34.7%
Abnormality of head or neck
22.4%
Abnormality of the eye
22.4%
Abnormality of the musculoskeletal system
21.4%
Abnormality of the cardiovascular system
18.4%
Abnormality of the integument
12.2%
Abnormality of the ear
10.2%
Abnormality of the genitourinary system
10.2%
Abnormality of limbs
9.2%
Growth abnormality
7.1%
Abnormality of blood and blood-forming tissues
5.1%
Abnormality of the immune system
5.1%
Neoplasm
5.1%
Abnormality of the digestive system
3.1%
Abnormality of the endocrine system
3.1%
Abnormality of the respiratory system
3.1%
Abnormality of prenatal development or birth
2%
Abnormality of the breast
1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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