ITGA2B

integrin subunit alpha 2b
OMIM: 607759, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green ITGA2B in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.43

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bleeding disorder, platelet-type, 16, MIM# 187800
  • MONDO:000855
  • Glanzmann thrombasthaenia 1, MIM# 273800

Green ITGA2B in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bleeding disorder, platelet-type, 16, MIM# 187800
  • MONDO:000855
  • Glanzmann thrombasthaenia 1, MIM# 273800

Green ITGA2B in IBMDx study


Version 0.25

review Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glanzmann thrombasthenia, Platelet-type bleeding disorder 16

Green ITGA2B in BabyScreen+ newborn screening


Level 2: Screening
Version 1.114

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Glanzmann thrombasthaenia 1, MIM# 273800
Tags
  • treatable
  • haematological

Green ITGA2B in Transplant Co-Morbidity Superpanel


Level 2: Screening
Version 0.18

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glanzmann thrombasthaenia 1, MIM# 273800
  • MONDO:000855
  • Bleeding disorder, platelet-type, 16, MIM# 187800