P2RX1

purinergic receptor P2X 1
OMIM: 600845, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber P2RX1 in Bleeding and platelet disorders


Level 2: Haematology
Version 4.6
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Purinergic receptor P2X, ligand-gated ion channel, 1 DEFICIENCY