TBXA2R

thromboxane A2 receptor
OMIM: 188070, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green TBXA2R in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.164

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
  • Thromboxane A2 receptor defect

Green TBXA2R in Bleeding and platelet disorders


Version 1.31
Latest signed off version: v1.2 (3 Mar 2020)

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
  • 614009.BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO
  • BDPLT13
  • 614009 BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO

Green TBXA2R in Severe Paediatric Disorders


Version 1.84

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • {Bleeding disorder, platelet-type, 13, susceptibility to}, 614009