1. Genes and Genomic Entities
  2. P2RY12

P2RY12

purinergic receptor P2Y12
OMIM: 600515, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green P2RY12 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 Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • ADP receptor defect
Green P2RY12 in Bleeding and platelet disorders


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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • 600515.PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12
  • P2RY12
  • 600515 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12
Green P2RY12 in Severe Paediatric Disorders


Version 1.184

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Bleeding disorder, platelet-type, 8, 609821