1. Panels
  2. Ataxia - paediatric
  3. PNKD
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Ataxia - paediatric

Gene: PNKD

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

2 reviews

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. More than 5 unrelated families reported. Incomplete penetrance.
Created: 29 Apr 2021, 12:53 a.m. | Last Modified: 29 Apr 2021, 12:53 a.m.
Panel Version: 0.7412

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800; MONDO:0007326

Publications

Created: 29 Apr 2021, 12:53 a.m.
Last Modified: 29 Apr 2021, 12:53 a.m.
Panel version: Imported from Mendeliome panel version 0.7412

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Condition has many overlapping features with episodic ataxia.
Sources: Expert list
Created: 16 Jan 2020, 10:51 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Paroxysmal nonkinesigenic dyskinesia 1, 118800

Created: 16 Jan 2020, 10:51 p.m.

Panel version: 0.31

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Paroxysmal nonkinesigenic dyskinesia 1, 118800
OMIM
609023
Clinvar variants
Variants in PNKD
Penetrance
None
Panels with this gene

History Filter Activity

17 Apr 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).

16 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

16 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: PNKD was added gene: PNKD was added to Ataxia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PNKD were set to Paroxysmal nonkinesigenic dyskinesia 1, 118800 Review for gene: PNKD was set to GREEN