Early onset and familial Parkinson's Disease
Gene: PRKN

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

3 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: 0.52

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Is on the Parkinson's Disease NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.
Created: 10 Jun 2016, 10:22 a.m.

Created: 10 Jun 2016, 10:22 a.m.

Panel version: 0.7

Huw Morris (UCL)

Green List (high evidence)

Accounts for about 8% of early onset PD patients; can involve single or multi-exon deletions; nsSNPs considered pathogenic are collated at http://www.molgen.vib-ua.be/PDMutDB/
Created: 3 Jun 2016, 10:24 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Parkinson's disease; PD; Parkinsonism-dystonia; Autosomal recessive juvenile parkinsonism

Publications

PMID: 22956510

Created: 3 Jun 2016, 10:24 p.m.

Panel version: 0.0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Eligibility statement prior genetic testing
Expert
UKGTN
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Parkinson Disease, Juvenile
Parkinson Disease 2, Autosomal Recessive Juvenile

OMIM

602544

Clinvar variants

Variants in PRKN

Penetrance

Complete

Publications

PMID: 22956510

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 and familial Parkinson's Disease

10 Jun 2016, Gel status: 4