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Mitochondrial 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

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of mitochondrial protein quality control
  • Parkinson disease MONDO:0005180
OMIM
602544
Clinvar variants
Variants in PRKN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 May 2024, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PRKN was added gene: PRKN was added to Mitochondrial disease. Sources: Expert Review Green Mode of inheritance for gene: PRKN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRKN were set to 29884839; 38069350 Phenotypes for gene: PRKN were set to Disorders of mitochondrial protein quality control; Parkinson disease MONDO:0005180