PNKP Chromosome 19
Polynucleotide kinase 3'-phosphatase
Upload your DNA to see your personal genotypes for variants in PNKP.
What This Gene Does
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.[provided by RefSeq, Sep 2010]
Gene Info
Gene Group
HAD Asp-based non-protein phosphatases
Locus Type
gene with protein product
Location
19q13.33
Ensembl
ENSG00000039650
Associated Conditions (26)
Microcephaly
seizures
and developmental delay
Developmental and epileptic encephalopathy
12
Inborn genetic diseases
PNKP-related disorder
Uterine corpus endometrial carcinoma
Ataxia - oculomotor apraxia type 4
Abnormal cerebral morphology
Charcot-Marie-Tooth disease type 2B2
Colon adenocarcinoma
Ovarian serous cystadenocarcinoma
Hepatocellular carcinoma
Adrenocortical carcinoma
hereditary
Global developmental delay
Primary microcephaly
Cerebellar atrophy
Abnormality of the nervous system
+6 more conditions
Key Variants
RS1017330396
Conflicting classifications of pathogenicity
Microcephaly, seizures, and developmental delay
Health Risk
RS1030404078
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy
Health Risk
RS1050332
Conflicting classifications of pathogenicity
Microcephaly, seizures, and developmental delay
Health Risk
RS115259839
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 12, Microcephaly
Health Risk
RS116192442
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 12, Microcephaly
Health Risk
RS1279136929
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy
Health Risk
RS1313353571
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy
Health Risk
RS139679798
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy
Health Risk
RS141969535
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 12, Microcephaly
Health Risk
RS142143566
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 12, Inborn genetic diseases
Health Risk
RS144257114
Conflicting classifications of pathogenicity
Microcephaly, seizures, and developmental delay
Health Risk
RS144284975
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 12, Microcephaly
Health Risk
All Variants (190)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2514636093 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS2514638711 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS2514644262 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS267606956 | Health Risk | Pathogenic | Microcephaly, seizures, and developmental delay |
| RS267606957 | Health Risk | Pathogenic | Microcephaly, seizures, and developmental delay |
| RS375781731 | Health Risk | Pathogenic | — |
| RS539286945 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS587784365 | Health Risk | Pathogenic | Microcephaly, seizures, and developmental delay |
| RS745505490 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS746413622 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS751675183 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS752902474 | Health Risk | Pathogenic | Microcephaly, seizures, and developmental delay |
| RS756746191 | Health Risk | Pathogenic | Ataxia - oculomotor apraxia type 4, Ataxia - oculomotor apraxia type 4 |
| RS763027558 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS766530579 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS767645983 | Health Risk | Pathogenic | Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma |
| RS772727116 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS780627462 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS780834499 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 12, Ataxia - oculomotor apraxia type 4 |
| RS786203983 | Health Risk | Pathogenic | Ataxia - oculomotor apraxia type 4, Inborn genetic diseases, Developmental and epileptic encephalopathy |
| RS796052861 | Health Risk | Pathogenic | — |
| RS886037744 | Health Risk | Pathogenic | Ataxia - oculomotor apraxia type 4, Ataxia - oculomotor apraxia type 4 |
| RS916130044 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS965965834 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS1057520630 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 12, Ovarian serous cystadenocarcinoma |
| RS1131691883 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS1170743406 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS1413085852 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS1568663209 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS372404688 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 12, Ataxia - oculomotor apraxia type 4 |
| RS587784366 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly, seizures, and developmental delay |
| RS764379536 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Developmental and epileptic encephalopathy, 12 |
| RS768847609 | Health Risk | Pathogenic/Likely pathogenic | Abnormality of the nervous system, Inborn genetic diseases, Developmental and epileptic encephalopathy |
| RS786205207 | Health Risk | Pathogenic/Likely pathogenic | Ataxia - oculomotor apraxia type 4, Microcephaly, seizures |
| RS796052850 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS796052859 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 12, Inborn genetic diseases |
| RS796052860 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Developmental and epileptic encephalopathy, 12 |
| RS796052862 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 12, Charcot-Marie-Tooth disease type 2B2 |
| RS893076827 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS982113263 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 12, Ataxia - oculomotor apraxia type 4 |