This Panel is marked as Internal
DNA Repair Genes pertinent cancer susceptibility
Gene: PNKP
PNKP (polynucleotide kinase 3'-phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000039650
EnsemblGeneIds (GRCh37): ENSG00000039650
OMIM: 605610, Gene2Phenotype
PNKP is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000039650
EnsemblGeneIds (GRCh37): ENSG00000039650
OMIM: 605610, Gene2Phenotype
PNKP is in 12 panels
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Details
- Sources
-
- Human DNA Repair Genes Database
- Phenotypes
-
- Class: Other BER and strand break joining factors
- Activity: Converts some DNA breaks to ligatable ends
- OMIM
- 605610
- Clinvar variants
- Variants in PNKP
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Early onset or syndromic epilepsy
- Severe microcephaly
- Adult onset neurodegenerative disorder
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary neuropathy
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
7 Sep 2018, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Louise Daugherty: changed gene symbol to approve
21 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PNKP was created by ellenmcdonagh
21 Jun 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)PNKP was added to DNA Repair Genespanel. Sources: Human DNA Repair Genes Database