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OTOR

Synonyms
FDP, MIAL1
External resources
Summary
This gene encodes a member of the melanoma-inhibiting activity gene family. The encoded protein is secreted via the Golgi apparatus and may function in cartilage development and maintenance. A frequent polymorphism in the translation start codon of this gene can abolish translation and may be associated with forms of 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
18
Likely pathogenic
0
VUS
1,406
Likely benign
248
Benign
0

Patient Phenotypes

Proportions of phenotypes among 18 patients carrying pathogenic or likely pathogenic variants on OTOR gene are displayed below. The following symptoms were found in patients with a variant in OTOR. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
33.3%
Abnormality of the musculoskeletal system
27.8%
Abnormality of head or neck
22.2%
Abnormality of the digestive system
16.7%
Neoplasm
16.7%
Abnormality of the ear
11.1%
Abnormality of the eye
11.1%
Abnormality of the genitourinary system
11.1%
Growth abnormality
11.1%
Abnormality of blood and blood forming tissues
5.6%
Abnormality of limbs
5.6%
Abnormality of metabolism homeostasis
5.6%
Abnormality of the breast
5.6%
Abnormality of the cardiovascular system
5.6%
Abnormality of the endocrine system
5.6%
Abnormality of the immune system
5.6%
Abnormality of the integument
5.6%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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