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PDK2

Synonyms
PDHK2, PDKII
External resources
Summary
This gene encodes a member of the pyruvate dehydrogenase kinase family. The encoded protein phosphorylates pyruvate dehydrogenase, down-regulating the activity of the mitochondrial pyruvate dehydrogenase complex. Overexpression of this gene may play a role in both cancer and diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

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
22
Likely pathogenic
0
VUS
1,780
Likely benign
23
Benign
0

Patient phenotypes

Proportions of phenotypes among 22 patients carring pathogenic or likely pathogenic variants on PDK2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
54.5%
Abnormality of the cardiovascular system
31.8%
Abnormality of the musculoskeletal system
31.8%
Abnormality of the eye
27.3%
Abnormality of head or neck
18.2%
Abnormality of the digestive system
18.2%
Abnormality of limbs
13.6%
Abnormality of the integument
13.6%
Growth abnormality
9.1%
Neoplasm
9.1%
Abnormality of prenatal development or birth
4.5%
Abnormality of the ear
4.5%
Abnormality of the endocrine system
4.5%
Abnormality of the immune system
4.5%
Abnormality of the respiratory system
4.5%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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