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  3. PRKN
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Complex Parkinsonism (includes pallido-pyramidal syndromes)

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

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: 0.51

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, 10:25 a.m.
Created: 10 Jun 2016, 10:25 a.m.

Panel version: 0.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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
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: Complex Parkinsonism (includes pallido-pyramidal syndromes)

10 Jun 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).

10 Jun 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).

24 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PARK2 was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: UKGTN

24 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PARK2 was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: Illumina TruGenome Clinical Sequencing Services