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 2: Developmental disorders
Version 9.285
Latest signed off version: v9.0 (30 Apr 2025)

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