ITGA2B

integrin subunit alpha 2b
OMIM: 607759, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green ITGA2B in Inherited bleeding disorders

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

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Glanzmann thrombasthenia (BIALLELIC, autosomal or pseudoautosomal)
  • 273800
  • Bleeding disorder, platelet-type, 16, autosomal dominant (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown )
  • 187800
  • BDPLT16
  • Congenital macrothrombocytopenia

Red ITGA2B in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.88

review Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • BAK platelet antigen Glanzmann thrombasthenia, 273800

Green ITGA2B in Bleeding and platelet disorders


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

review BOTH monoallelic and 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
  • 273800 Glanzmann thrombasthenia
  • 187800 Bleeding disorder, platelet-type, 16, autosomal dominant

Red ITGA2B in Cytopenia - NOT Fanconi anaemia


Version 1.43
Latest signed off version: v1.29 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert review Red
  • NHS GMS
  • North West GLH
  • London South GLH
  • Yorkshire and North East GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Glanzmann thrombasthenia, 273800

Green ITGA2B in Severe Paediatric Disorders


Version 1.84

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Bleeding disorder, platelet-type, 16, autosomal dominant, 187800
  • Thrombocytopenia, neonatal alloimmune, BAK antigen related
  • Glanzmann thrombasthenia, 273800