PNKP - Gene browser

PNKP

polynucleotide kinase 3'-phosphatase

HCNC Approved Symbol: PNKP (HGNC:9154)
Genomic Coordinates: 19:49,861,204 - 49,867,576 (19q13.33)
Synonyms: PNK
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

11Patients

In total, 11 patients were diagnosed with a variant in the PNKP gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

011
Patient count

Muscle cramps: 4 (36.4%)
Patient Count: 4 (36.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (36.4%)
Imbalanced walk: 3 (27.3%)
Patient Count: 3 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (27.3%)
Developmental delay: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Microcephaly: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Seizures: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)