PRKN

parkin RBR E3 ubiquitin protein ligase
OMIM: 602544, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green PRKN in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.70

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Eligibility statement prior genetic testing
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
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 1.89

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

Red PRKN in Autism


Version 0.22

review Not set
Sources
  • Expert Review Red
  • SFARI

Green PRKN in Neurodegenerative disorders - adult onset


Version 2.201
Latest signed off version: v2.178 (5 Aug 2021)

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 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1395
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 movement disorder


    Version 1.125
    Latest signed off version: v1.121 (5 Aug 2021)

    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 or chorea or related movement disorder


    Version 1.162
    Latest signed off version: v1.137 (5 Aug 2021)

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

    Green PRKN in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Parkinson disease, juvenile, type 2, 600116