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Early-onset Parkinson disease

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 8 panels

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Incomplete penetrance has been reported in at least one family (PMID: 16476817).
LoF has been shown also for missense, even though they suggested it is dominant gain-of-function, it is a misinterpretation of mechanism (PMID: 14519684).
Created: 24 Jan 2020, 5:58 a.m. | Last Modified: 24 Jan 2020, 5:58 a.m.
Panel Version: 0.7

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Parkinson disease, juvenile, type 2 600116 AR; Adenocarcinoma of lung, somatic 211980; Ovarian cancer, somatic 167000

Publications

Created: 24 Jan 2020, 5:58 a.m.
Last Modified: 24 Jan 2020, 5:58 a.m.
Panel version: 0.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • autosomal recessive juvenile Parkinson disease 2 MONDO:0010820
OMIM
602544
Clinvar variants
Variants in PRKN
Penetrance
None
Panels with this gene

History Filter Activity

21 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: prkn has been classified as Green List (High Evidence).

21 Apr 2024, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: PRKN were changed from to autosomal recessive juvenile Parkinson disease 2 MONDO:0010820

21 Apr 2024, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: PRKN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PRKN was added gene: PRKN was added to Early onset Parkinson disease_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: PRKN was set to Unknown