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  2. Paroxysmal Dyskinesia
  3. PNKD
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Paroxysmal Dyskinesia

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)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800

Created: 22 Apr 2020, 7:53 a.m.
Last Modified: 22 Apr 2020, 7:53 a.m.
Panel version: 0.25

Eunice Chan (Royal Children's Hospital)

Also known as MR-1
Created: 22 Apr 2020, 4:05 a.m. | Last Modified: 22 Apr 2020, 4:05 a.m.
Panel Version: 0.10
Created: 22 Apr 2020, 4:05 a.m.
Last Modified: 22 Apr 2020, 4:05 a.m.
Panel version: 0.10

Details

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

History Filter Activity

22 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).

22 Apr 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

22 Apr 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 Dec 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 Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department Mode of inheritance for gene: PNKD was set to Unknown