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Brain Channelopathies

Gene: PNKD

Green List (high evidence)
PNKD (paroxysmal nonkinesigenic dyskinesia)
EnsemblGeneIds (GRCh38): ENSG00000127838
EnsemblGeneIds (GRCh37): ENSG00000127838
OMIM: 609023, Gene2Phenotype
PNKD is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Paroxysmal nonkinesigenic dyskinesia-1 (PNKD1) is an autosomal dominant movement disorder characterized by attacks of dystonia, chorea, and athetosis. Attacks may be precipitated by stress, fatigue, caffeine, alcohol, ovulation, or menstruation, and may last minutes to hours.

Unclear if protein is a channel, included due to phenotypic overlap.
Created: 29 Dec 2020, 9:55 p.m. | Last Modified: 29 Dec 2020, 9:55 p.m.
Panel Version: 0.58

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800

Publications

Created: 29 Dec 2020, 9:55 p.m.
Last Modified: 29 Dec 2020, 9:55 p.m.
Panel version: 0.58

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800
OMIM
609023
Clinvar variants
Variants in PNKD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pnkd has been classified as Green List (High Evidence).

29 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PNKD were changed from to Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800

29 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PNKD were set to

29 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PNKD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PNKD was added gene: PNKD was added to Channelopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PNKD was set to Unknown