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  2. Childhood onset dystonia, chorea or related movement disorder
  3. PNKP
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Childhood onset dystonia, chorea or related movement disorder

Gene: PNKP

Green List (high evidence)
PNKP (polynucleotide kinase 3'-phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000039650
EnsemblGeneIds (GRCh37): ENSG00000039650
OMIM: 605610, Gene2Phenotype
PNKP is in 12 panels

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

History Filter Activity

9 Dec 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: PNKP were changed from Ataxia-oculomotor apraxia 4; Microcephaly, seizures, and developmental delay to Ataxia-oculomotor apraxia 4, 616267; Microcephaly, seizures, and developmental delay, 613402

6 Dec 2019, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene: PNKP were changed from to Ataxia-oculomotor apraxia 4; Microcephaly, seizures, and developmental delay

6 Dec 2019, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: PNKP was changed from to BIALLELIC, autosomal or pseudoautosomal

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: PNKP was added gene: PNKP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: PNKP was set to