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PANK3

Synonyms
-
External resources
Summary
This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. This family member is expressed most abundantly in the liver.

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
15
Likely pathogenic
0
VUS
5,900
Likely benign
1,179
Benign
0

Patient Phenotypes

Proportions of phenotypes among 10 patients carrying pathogenic or likely pathogenic variants on PANK3 gene are displayed below. The following symptoms were found in patients with a variant in PANK3. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40%
Growth abnormality
40%
Abnormality of head or neck
30%
Abnormality of the ear
30%
Abnormality of the eye
30%
Abnormality of the cardiovascular system
20%
Abnormality of the integument
20%
Abnormality of the musculoskeletal system
20%
Abnormality of blood and blood forming tissues
10%
Abnormality of limbs
10%
Abnormality of the immune system
10%
Abnormality of the respiratory system
10%
Abnormal cellular phenotype
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 thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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