ITGB3

integrin subunit beta 3
OMIM: 173470, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green ITGB3 in COVID-19 research Level 2: Viral research Version 1.146	review	Unknown	Sources Expert Review Green OMIM Expert list
Red ITGB3 in Familial hypercholesterolaemia Level 3: Arteriopathies Level 2: Cardiovascular disorders Version 1.31	review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes PL(A) platelet antigen Glanzmann thrombasthenia, 273800 Thrombocytopenia, neonatal alloimmune {Myocardial infarction, susceptibility to}, 608446 Purpura, posttransfusion Bleeding disorder, platelet-type, 16, autosomal dominant, 187800
Green ITGB3 in Inherited bleeding disorders Level 3: Haemostasis disorders Level 2: Haematological and immunological disorders Version 1.182	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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 ITGB3 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.123	review	Other - please specify in evaluation comments	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes PL(A) platelet antigen Glanzmann thrombasthenia, 273800
Green ITGB3 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 (but BIALLELIC mutations cause a more SEVERE disease form), 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 ITGB3 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