PTPA

protein phosphatase 2 phosphatase activator
OMIM: 600756, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber PTPA in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.3

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Intellectual disability, MONDO: 36073231, PTPA-related
    • Parkisonism

    Amber PTPA in Mendeliome


    Version 1.1902

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Intellectual disability, MONDO: 36073231, PTPA-related

    Amber PTPA in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Intellectual disability
    • Parkinsonism