Early onset dystonia
Gene: PRKN

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

2 reviews

Louise Daugherty (Genomics England Curator)

New approved gene symbol is PRKN
Created: 24 Mar 2017, 11:30 a.m.

Created: 24 Mar 2017, 11:30 a.m.

Panel version: 1.22

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Multiple cases with Parkinson disease, juvenile, type 2 and different variants within this gene in OMIM.
Created: 23 Aug 2016, 2:16 p.m.

Comment on list classification: Promoted from red to green due to feedback from Huw Morris (UCL).
Created: 19 Aug 2016, 9:26 a.m.

Comment on list classification: Is on the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual for parkinson's disease and parkinsonism.
Created: 10 Jun 2016, 7:44 a.m.

Comment on mode of inheritance: Source: OMIM.
Created: 10 Jun 2016, 6:34 a.m.

Created: 10 Jun 2016, 6:30 a.m.

Panel version: 0.63

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Emory Genetics Laboratory

Phenotypes

Dystonia
juvenile parkinsonism/dystonia
Parkinson disease, juvenile, type 2

OMIM

602544

Clinvar variants

Variants in PRKN

Penetrance

Complete

Panels with this gene

History Filter Activity

5 Nov 2017, Gel status: 4

Changed Gene Name

GEL ()

PARK2 was changed to PRKN

5 Nov 2017, Gel status: 4

Removed Tag

GEL ()

new-gene-name was removed from PARK2. Panel: Early onset dystonia

17 Oct 2016, Gel status: 4