PARK7

Parkinsonism associated deglycase
OMIM: 602533, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green PARK7 in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.55

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 PARK7 in Early-onset Parkinson disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.50

    Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • autosomal recessive early-onset Parkinson disease 7 MONDO:0011658

    Green PARK7 in Cataract


    Level 2: Ophthalmological disorders
    Version 0.631

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Parkinson disease 7, autosomal recessive early-onset, MIM# 606324

    Green PARK7 in Incidentalome


    Version 0.430

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Parkinson disease 7, autosomal recessive early-onset MIM#606324

    Green PARK7 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.607

    0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green PARK7 in Dystonia and Chorea


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.340

    Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    • Expert list
    Phenotypes
    • Parkinson disease 7, autosomal recessive early-onset MIM#606324