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Childhood onset dystonia or chorea or related movement disorder

Gene: PRKN

Green List (high evidence)

PRKN (parkin RBR E3 ubiquitin protein ligase)
EnsemblGeneIds (GRCh38): ENSG00000185345
EnsemblGeneIds (GRCh37): ENSG00000185345
OMIM: 602544, Gene2Phenotype
PRKN is in 8 panels

1 review

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

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • PanelApp
  • Expert Review Green
  • London North GLH
Phenotypes
  • Dystonia
  • Parkinson disease, juvenile, type 2, 600116
  • juvenile parkinsonism/dystonia
OMIM
602544
Clinvar variants
Variants in PRKN
Penetrance
None
Panels with this gene

History Filter Activity

9 Dec 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: PRKN were changed from Dystonia; Parkinson disease, juvenile, type 2; juvenile parkinsonism/dystonia to Dystonia; Parkinson disease, juvenile, type 2, 600116; juvenile parkinsonism/dystonia

6 Dec 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to PRKN. Mode of inheritance for gene PRKN was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dystonia; Parkinson disease, juvenile, type 2; juvenile parkinsonism/dystonia for gene: PRKN

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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