PINK1

PTEN induced putative kinase 1
OMIM: 608309, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green PINK1 in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.32

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green PINK1 in Early-onset Parkinson disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.12

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Parkinson disease 6, early onset MIM#605909

    Green PINK1 in Incidentalome


    Version 0.314

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green PINK1 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.970

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert list
    Phenotypes
    • Parkinson disease 6, early onset, MIM# 605909

    Red PINK1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Parkinson disease 6, early onset, MIM#605909

    Green PINK1 in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.272

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Parkinson disease 6, early onset
    • Dystonia

    Green PINK1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Parkinson disease 6, early onset

    Red PINK1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Parkinson disease 6, early onset, MIM#605909