Ataxia and cerebellar anomalies - narrow panel
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
- 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
- None
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- DDG2P
- Hereditary ataxia
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary neuropathy
- Severe microcephaly
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Early onset or syndromic epilepsy
- Fetal anomalies
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PNKP was added gene: PNKP was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNKP were set to Ataxia with oculomotor apraxia 4 (#616267)