Childhood onset dystonia, chorea or related movement disorder
Gene: PRKN

PRKN (parkin RBR E3 ubiquitin protein ligase)
EnsemblGeneIds (GRCh38): ENSG00000185345
EnsemblGeneIds (GRCh37): ENSG00000185345
OMIM: 602544, Gene2Phenotype
PRKN is in 6 panels

1 review

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

Green List (high evidence)

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

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