TBXA2R

thromboxane A2 receptor
OMIM: 188070, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green TBXA2R in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.182

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • {Bleeding disorder, platelet-type, 13, susceptibility to}, OMIM:614009
Green TBXA2R in Bleeding and platelet disorders


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

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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
  • {Bleeding disorder, platelet-type, 13, susceptibility to}, OMIM:614009