1. Genes and Genomic Entities
  2. ITGA2B

ITGA2B

integrin subunit alpha 2b
OMIM: 607759, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green ITGA2B in Inherited bleeding disorders

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

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 1.123

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


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

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


Level 2: Haematology
Version 4.32
Latest signed off version: v4.0 (30 Apr 2025)

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