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AGK

Synonyms
CATC5, CTRCT38, MTDPS10, MULK
External resources
Summary
The protein encoded by this gene is a mitochondrial membrane protein involved in lipid and glycerolipid metabolism. The encoded protein is a lipid kinase that catalyzes the formation of phosphatidic and lysophosphatidic acids. Defects in this gene have been associated with mitochondrial DNA depletion syndrome 10.

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
8
Likely pathogenic
0
VUS
1,100
Likely benign
1,030
Benign
9

Patient phenotypes

Proportions of phenotypes among 8 patients carring pathogenic or likely pathogenic variants on AGK gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
25%
Abnormality of the eye
25%
Abnormality of the nervous system
25%
Growth abnormality
25%
Abnormality of the cardiovascular system
12.5%
Abnormality of the ear
12.5%
Abnormality of the musculoskeletal system
12.5%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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