Home > Gene Browser > OTOGL
OTOGL
- Synonyms
- C12orf64, DFNB84B
- External resources
- NCBI283310
- OMIM614925
- EnsemblENSG00000165899
- HGNCHGNC:26901
- 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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