PRKN

parkin RBR E3 ubiquitin protein ligase
OMIM: 602544, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green PRKN in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review 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

Green PRKN in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 3.0

1 review 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

Green PRKN in Incidentalome


Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Parkinson disease, juvenile, type 2 MIM#600116

Green PRKN in Mitochondrial disease


Level 2: Metabolic disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of mitochondrial protein quality control
  • Parkinson disease MONDO:0005180

Green PRKN in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Red PRKN in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Parkinson disease, juvenile, type 2, MIM#600116

Amber PRKN in Paroxysmal Dyskinesia


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Parkinson disease, juvenile, type 2 MIM#600116
  • paroxysmal exercise induced dyskinesia
  • fasting induced dyskinesia
  • early onset parkinsonism

Green PRKN in Dystonia and Chorea


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • juvenile parkinsonism/dystonia
  • Parkinson disease, juvenile, type 2
  • Dystonia