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OTOG

Synonyms
DFNB18B, MLEMP, OTGN
External resources
Summary
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.

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
112
Likely pathogenic
0
VUS
9,078
Likely benign
4,823
Benign
3,773

Patient Phenotypes

Proportions of phenotypes among 91 patients carrying pathogenic or likely pathogenic variants on OTOG gene are displayed below. The following symptoms were found in patients with a variant in OTOG. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
44%
Abnormality of the musculoskeletal system
30.8%
Abnormality of head or neck
27.5%
Abnormality of the eye
23.1%
Abnormality of the ear
19.8%
Abnormality of the cardiovascular system
12.1%
Growth abnormality
12.1%
Abnormality of metabolism homeostasis
11%
Abnormality of the genitourinary system
11%
Abnormality of the integument
9.9%
Abnormality of limbs
8.8%
Abnormality of blood and blood forming tissues
7.7%
Abnormality of the digestive system
5.5%
Abnormality of the endocrine system
4.4%
Abnormality of the immune system
4.4%
Constitutional symptom
4.4%
Abnormality of the respiratory system
3.3%
Neoplasm
2.2%
Abnormal cellular phenotype
1.1%
Abnormality of prenatal development or birth
1.1%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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