PTPN1

protein tyrosine phosphatase non-receptor type 1
OMIM: 176885, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green PTPN1 in Mendeliome


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Type 1 interferonopathy of childhood, MONDO:0957408, PTPN1-related

Green PTPN1 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Type 1 interferonopathy of childhood, MONDO:0957408, PTPN1-related

Green PTPN1 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
    • Type 1 interferonopathy of childhood, MONDO:0957408, PTPN1-related

    Green PTPN1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Type 1 interferonopathy of childhood, MONDO:0957408, PTPN1-related