PTPN13

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber PTPN13 in Haematological malignancies


Level 2: Cancer susceptibility
Version 0.148

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • bone marrow failure and acute lymphoblastic leukemia

Amber PTPN13 in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.9

Component of the following Super Panels:

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

    Amber PTPN13 in Mendeliome


    Version 2.588

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