1. Genes and Genomic Entities
  2. P2RX1

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


Version 3.10
Latest signed off version: v3.0 (22 Mar 2023)

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