PINK1:Ensemblv90

PTEN induced putative kinase 1
OMIM: 608309, ClinGen, DECIPHER

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green PINK1 in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.52

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • 1 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 2.44

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • 1 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 0.370

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

    Green PINK1 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.1299

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 2 reviews 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 1.508

    1 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 0.290

    Component of the following Super Panels:

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

    Red PINK1 in NCGC


    Version 0.3

    0 reviews Other
    Sources
    • NCGC
    Phenotypes
    • NA

    Green PINK1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

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

    Red PINK1 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

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

    Green PINK1 in Early-onset Dementia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Complex Neurology Flagship

    Green PINK1 in Early-onset Parkinson disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 3.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Expert Review Green
    Phenotypes
    • Parkinson disease 6, early onset MIM#605909

    Green PINK1 in Incidentalome


    Version 1.0

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

    Green PINK1 in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Parkinson disease 6, early onset
    • Dystonia