PRKN

parkin RBR E3 ubiquitin protein ligase
OMIM: 602544, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green PRKN in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.128

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Eligibility statement prior genetic testing
  • Expert
Phenotypes
  • Parkinson Disease, Juvenile
  • Parkinson Disease 2, Autosomal Recessive Juvenile
Green PRKN in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.152

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
  • juvenile parkinsonism/dystonia
  • Parkinson disease, juvenile, type 2
Green PRKN in Adult onset neurodegenerative disorder


Level 2: Neurology
Version 8.21
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
Phenotypes
  • Parkinson disease, juvenile, type 2, OMIM:600116
  • Dystonia
Red PRKN in Intellectual disability


Level 2: Developmental disorders
Version 9.370
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Parkinson disease, juvenile, type 2, 600116
    • Adenocarcinoma of lung, somatic, 211980
    • Adenocarcinoma, ovarian, somatic, 167000
    • {Leprosy, susceptibility to}, 607572
    Green PRKN in Adult onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 5.5
    Latest signed off version: v5.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Parkinson disease, juvenile, type 2, OMIM:600116
    Green PRKN in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.20
    Latest signed off version: v7.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Dystonia
    • Parkinson disease, juvenile, type 2, 600116
    • juvenile parkinsonism/dystonia