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OTOS

Synonyms
OTOSP
External resources
Summary
Otospiralin is synthesized by nonsensory cells (fibrocytes) of the inner ear, and downregulation of otospiralin in guinea pigs leads to deafness (Lavigne-Rebillard et al., 2003

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
4
Likely pathogenic
0
VUS
1,084
Likely benign
129
Benign
0

Patient phenotypes

Proportions of phenotypes among 4 patients carring pathogenic or likely pathogenic variants on OTOS gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
75%
Growth abnormality
50%
Abnormal cellular phenotype
25%
Abnormality of blood and blood-forming tissues
25%
Abnormality of head or neck
25%
Abnormality of limbs
25%
Abnormality of the eye
25%
Abnormality of the immune system
25%
Abnormality of the integument
25%
Abnormality of the musculoskeletal system
25%
Abnormality of the respiratory system
25%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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