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MTO1

Synonyms
CGI-02, COXPD10
External resources
Summary
This gene encodes a mitochondrial protein thought to be involved in mitochondrial tRNA modification. The encoded protein may also play a role in the expression of the non-syndromic and aminoglycoside-induced deafness phenotypes associated with a specific mutation in the mitochondrial 12S rRNA gene. Multiple transcript variants encoding different isoforms have been found for this gene.

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
19
Likely pathogenic
5
VUS
2,383
Likely benign
1,264
Benign
0

Patient phenotypes

Proportions of phenotypes among 23 patients carrying pathogenic or likely pathogenic variants on MTO1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
52.2%
Abnormality of the cardiovascular system
26.1%
Abnormality of the genitourinary system
21.7%
Abnormality of the musculoskeletal system
21.7%
Abnormality of head or neck
13%
Abnormality of limbs
13%
Abnormality of the eye
13%
Abnormality of the digestive system
8.7%
Abnormality of the ear
8.7%
Constitutional symptom
8.7%
Growth abnormality
8.7%
Abnormality of blood and blood-forming tissues
4.3%
Abnormality of prenatal development or birth
4.3%
Abnormality of the endocrine system
4.3%
Abnormality of the immune system
4.3%
Abnormality of the respiratory system
4.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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