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COX20

Synonyms
FAM36A, MC4DN11
External resources
Summary
This gene encodes a protein that plays a role in the assembly of cytochrome C oxidase, an important component of the respiratory pathway. It contains two transmembrane helices and localizes to the mitochondrial membrane. Mutations in this gene can cause mitochondrial complex IV deficiency, which results in ataxia and muscle hypotonia. There are multiple pseudogenes for this gene. 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
11
Likely pathogenic
8
VUS
1,656
Likely benign
625
Benign
0

Patient phenotypes

Proportions of phenotypes among 19 patients carrying pathogenic or likely pathogenic variants on COX20 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
42.1%
Abnormality of the nervous system
42.1%
Abnormality of the musculoskeletal system
36.8%
Abnormality of the eye
31.6%
Growth abnormality
26.3%
Abnormality of limbs
21.1%
Abnormality of the integument
21.1%
Abnormality of the digestive system
10.5%
Abnormality of the ear
10.5%
Abnormality of the respiratory system
10.5%
Abnormality of blood and blood-forming tissues
5.3%
Abnormality of prenatal development or birth
5.3%
Abnormality of the endocrine system
5.3%
Abnormality of the genitourinary system
5.3%
Abnormality of the immune system
5.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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