Genes in panel

Neurodegenerative disorders - adult onset

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 7 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

An autosomal recessive form of familial juvenile parkinsonism, defined as onset before age 40 years, >3 cases
Created: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Parkinson disease, juvenile, type 2; Dystonia; Parkinson Disease 2, Autosomal Recessive Juvenile; juvenile parkinsonism/dystonia; Parkinson Disease, Juvenile

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Onset before age 40 years.
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Parkinson disease, juvenile, type 2; Dystonia; Parkinson Disease 2, Autosomal Recessive Juvenile; juvenile parkinsonism/dystonia; Parkinson Disease, Juvenile

Publications

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 5:35 p.m.

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

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
Phenotypes
  • Parkinson disease, juvenile, type 2
  • Dystonia
  • Parkinson Disease 2, Autosomal Recessive Juvenile
  • juvenile parkinsonism/dystonia
  • Parkinson Disease, Juvenile
OMIM
602544
Clinvar variants
Variants in PRKN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to PRKN.

23 Jul 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene PRKN were changed from PMID: 22956510 to 22956510; 12056932; 9560156

23 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to PRKN.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PRKN.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to PRKN.

25 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Comment on phenotypes: amended

18 Dec 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes Dystonia; Parkinson disease, juvenile, type 2; juvenile parkinsonism/dystonia for gene: PRKN

18 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: PRKN was added gene: PRKN was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: PRKN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRKN were set to PMID: 22956510 Phenotypes for gene: PRKN were set to Parkinson Disease 2, Autosomal Recessive Juvenile; Parkinson Disease, Juvenile