PINK1

PTEN induced putative kinase 1
OMIM: 608309, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green PINK1 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
  • Eligibility statement prior genetic testing
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Parkinson disease 6, early onset, 605909
  • Parkinson Disease 6, Autosomal Recessive Early-Onset
Green PINK1 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
Green PINK1 in Neurodegenerative disorders, adult onset


Level 2: Neurology
Version 9.5
Latest signed off version: v9.4 (12 Aug 2026)

Component of the following Super Panels:

  • Adult-onset neurological disorders
  • 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 6, early onset, OMIM:605909
    • Dystonia
    Green PINK1 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.645

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Parkinson disease 6, early onset 605909
    Green PINK1 in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 9.30
    Latest signed off version: v9.29 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    Phenotypes
    • Parkinson disease 6, early onset 605909
    Red PINK1 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.3
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Parkinson disease 6, early onset, 605909
    Green PINK1 in Dystonia, chorea or related movement disorder, adult onset


    Level 2: Neurology
    Version 6.8
    Latest signed off version: v6.7 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Parkinson disease 6, early onset, OMIM:605909
    Green PINK1 in Dystonia, chorea or related movement disorder, childhood onset


    Level 2: Neurology
    Version 8.14
    Latest signed off version: v8.13 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Parkinson disease 6, early onset, 605909
    • Dystonia