ITGB3

integrin subunit beta 3
OMIM: 173470, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green ITGB3 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.62

1 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 1.3512

1 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 Additional findings_Adult


Level 2: Screening
Version 1.130

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bleeding disorder, platelet-type, 24, MIM#619271

Green ITGB3 in IBMDx study


Version 0.38

1 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 Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.140

1 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


Level 2: Screening
Version 0.20

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