Dystonia - childhood onset

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 7 panels

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Details

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

History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: PRKN was added gene: PRKN was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: PRKN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRKN were set to juvenile parkinsonism/dystonia; Dystonia; Parkinson disease, juvenile, type 2