PTPN2

protein tyrosine phosphatase non-receptor type 2
OMIM: 176887, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green PTPN2 in Mendeliome


Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Autoinflammatory syndrome of childhood, MONDO:0957018, PTPN2-related

Green PTPN2 in Pulmonary Fibrosis_Interstitial Lung Disease


Level 2: Respiratory disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Inborn error of immunity, MONDO:0003778

Green PTPN2 in Disorders of immune dysregulation


Level 2: Immunological disorders
Version 2.0

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Autoinflammatory syndrome of childhood, MONDO:0957018, PTPN2-related

    Green PTPN2 in Autoinflammatory Disorders


    Level 2: Immunological disorders
    Version 3.0

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Autoinflammatory syndrome of childhood, MONDO:0957018, PTPN2-related