PTPN13:Ensemblv90

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber PTPN13 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.131

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 1.3802

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

    Red PTPN13 in CGC_86


    Version 0.3

    0 reviews Other
    Sources
    • CGC_86
    Phenotypes
    • NA

    Amber PTPN13 in Bone Marrow Failure


    Level 2: Haematological disorders
    Version 2.0

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