Hereditary ataxia
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
1 review
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Number of families - however disparate phenotypes even with same variant.Created: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia with oculomotor apraxia 4 (#616267)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Ataxia with oculomotor apraxia 4 (#616267)
- OMIM
- 605610
- Clinvar variants
- Variants in PNKP
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Fetal anomalies
- Severe microcephaly
- Hereditary neuropathy or pain disorder
- Adult onset neurodegenerative disorder
History Filter Activity
11 Jul 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
24 Nov 2015, Gel status: 0
Created
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)PNKP was created by jonathan.williams
24 Nov 2015, Gel status: 0
Added New Source
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)PNKP was added to Hereditary ataxiapanel. Sources: Expert Review