ITGB3

integrin subunit beta 3
OMIM: 173470, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green ITGB3 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.43

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bleeding disorder, platelet-type, 24, MIM#619271
  • MONDO:0008552

Green ITGB3 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bleeding disorder, platelet-type, 24, MIM#619271
  • MONDO:0008552

Green ITGB3 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 ITGB3 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Glanzmann thrombasthenia 2, MIM# 619267
Tags
  • treatable
  • haematological

Green ITGB3 in Transplant Co-Morbidity Superpanel


Level 2: Screening
Version 0.18

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bleeding disorder, platelet-type, 24, MIM#619271
  • MONDO:0008552