PTPA

protein phosphatase 2 phosphatase activator
OMIM: 600756, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber PTPA in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.11
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Intellectual disability, MONDO:0001071