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Parkinson Disease and Complex Parkinsonism

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 6 panels

4 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: 1.4

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
juvenile onset parkinson disease

Created: 29 Nov 2016, 3:33 p.m.

Panel version: 0.137

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Expert review green, multiple cases reported in OMIM with different variants.
Created: 2 Nov 2016, 1:34 p.m.
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: Imported from "Early onset and familial Parkinson's Disease" 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

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

Panel version: Imported from "Early onset and familial Parkinson's Disease" panel version 0.0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Expert
  • Eligibility statement prior genetic testing
  • 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
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: Parkinson Disease and Complex Parkinsonism

19 Dec 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

19th Dec 2016: panel revised according to expert review and further curation.

2 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Oct 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PARK2 was created by ellenmcdonagh

19 Oct 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PARK2 was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert,Eligibility statement prior genetic testing