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FAM136A

Synonyms
-
External resources
Summary
This gene encodes a mitochondrially localized protein that is highly conserved across species. The gene is expressed in a variety of tissues including human lymphoblast cells and rat neurosensorial epithelium of the cristaampullaris. A mutation in this gene has been associated with familial Meniere's disease, a chronic disorder of the inner ear. Several pseudogenes of this gene are found on other chromosomes. Alternative splicing results in multiple transcript variants.

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
8
Likely pathogenic
23
VUS
80,820
Likely benign
395
Benign
0

Patient phenotypes

Proportions of phenotypes among 31 patients carrying pathogenic or likely pathogenic variants on FAM136A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the integument
35.5%
Abnormality of the nervous system
29%
Abnormality of head or neck
22.6%
Abnormality of the immune system
19.4%
Abnormality of the musculoskeletal system
19.4%
Abnormality of the cardiovascular system
16.1%
Abnormality of the eye
16.1%
Abnormality of the genitourinary system
16.1%
Abnormality of blood and blood-forming tissues
12.9%
Abnormality of the ear
12.9%
Growth abnormality
12.9%
Abnormality of limbs
9.7%
Abnormality of the digestive system
9.7%
Abnormality of the endocrine system
3.2%
Abnormality of the respiratory system
3.2%
Abnormality of the voice
3.2%
Constitutional symptom
3.2%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Neoplasm
0%

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