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  3. PRKN
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Early-onset Dementia

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Cognitive decline has been reported in >3 cases.
Created: 6 Feb 2020, 5:45 a.m. | Last Modified: 6 Feb 2020, 5:45 a.m.
Panel Version: 0.7

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Parkinson disease, juvenile, type 2 MIM#600116

Publications

Created: 6 Feb 2020, 5:45 a.m.
Last Modified: 6 Feb 2020, 5:45 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
  • Parkinson disease, juvenile, type 2 MIM#600116
OMIM
602544
Clinvar variants
Variants in PRKN
Penetrance
None
Panels with this gene

History Filter Activity

6 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

6 Feb 2020, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: PRKN were changed from to Parkinson disease, juvenile, type 2 MIM#600116

6 Feb 2020, 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 Dementia_MGHA_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