1. Panels
  2. Adult onset dystonia, chorea or related movement disorder
  3. PRKN
Genes in panel
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Adult onset dystonia, chorea or related movement disorder

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)

I don't know

Review and rating submitted by James 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, 1:19 p.m.
Created: 23 Apr 2019, 1:19 p.m.

Panel version: 0.54

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

Green List (high evidence)

Created: 23 Apr 2019, 1:13 p.m.

Panel version: 0.53

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London North GLH
  • Expert Review Green
Phenotypes
  • Parkinson disease, juvenile, type 2, OMIM:600116
OMIM
602544
Clinvar variants
Variants in PRKN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Mar 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: PRKN were set to PMID: 22956510

29 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PRKN were changed from Parkinson Disease, Juvenile; juvenile parkinsonism/dystonia; Dystonia; Parkinson disease, juvenile, type 2; Parkinson Disease 2, Autosomal Recessive Juvenile to Parkinson disease, juvenile, type 2, OMIM:600116

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.

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: PRKN was added gene: PRKN was added to Adult onset movement disorder. 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, Juvenile; juvenile parkinsonism/dystonia; Dystonia; Parkinson disease, juvenile, type 2; Parkinson Disease 2, Autosomal Recessive Juvenile