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PNKP

Synonyms
AOA4, CMT2B2, EIEE10, MCSZ, PNK
External resources
Summary
This locus represents a gene involved in DNA repair. In response to ionizing radiation or oxidative damage, the protein encoded by this locus catalyzes 5' phosphorylation and 3' dephosphorylation of nucleic acids. Mutations at this locus have been associated with microcephaly, seizures, and developmental delay.

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
44
Likely pathogenic
3
VUS
9,763
Likely benign
5,651
Benign
544

Patient phenotypes

Proportions of phenotypes among 42 patients carrying pathogenic or likely pathogenic variants on PNKP gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of the musculoskeletal system
35.7%
Abnormality of head or neck
23.8%
Abnormality of the eye
21.4%
Abnormality of the cardiovascular system
16.7%
Abnormality of the digestive system
14.3%
Abnormality of the ear
14.3%
Abnormality of limbs
11.9%
Abnormality of the immune system
9.5%
Abnormality of the integument
7.1%
Constitutional symptom
7.1%
Growth abnormality
7.1%
Abnormality of the endocrine system
4.8%
Abnormality of the genitourinary system
4.8%
Abnormality of prenatal development or birth
2.4%
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 respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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