PanelApp (staging)
  1. Genes and Genomic Entities
  2. PTPA

PTPA

protein phosphatase 2 phosphatase activator
OMIM: 600756, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber PTPA in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.10

Component of the following Super Panels:

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

    		•  2 reviews 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 1.2302

    		2 reviews 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 1.63

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