PTPRJ

protein tyrosine phosphatase, receptor type J
OMIM: 600925, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber PTPRJ in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.177

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Thrombocytopenia
  • spontaneous bleeding, small-sized platelets, and impaired platelet responses to the GPVI agonists collagen and convulxin.
Tags
  • watchlist
Amber PTPRJ in Bleeding and platelet disorders


Version 3.9
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • North West GLH
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH