PTPN13

protein tyrosine phosphatase, non-receptor type 13
OMIM: 600267, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber PTPN13 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • bone marrow failure syndrome MONDO#0000159, PTPN13-related

    Amber PTPN13 in Mendeliome


    Version 1.2374

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • bone marrow failure syndrome MONDO#0000159, PTPN13-related