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  3. ITGA2B
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Transplant Co-Morbidity Superpanel

Gene: ITGA2B

Green List (high evidence)
ITGA2B (integrin subunit alpha 2b)
EnsemblGeneIds (GRCh38): ENSG00000005961
EnsemblGeneIds (GRCh37): ENSG00000005961
OMIM: 607759, Gene2Phenotype
ITGA2B is in 5 panels

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Details

Mode of Inheritance
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
OMIM
607759
Clinvar variants
Variants in ITGA2B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Aug 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: ITGA2B was added gene: ITGA2B was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: ITGA2B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ITGA2B were set to 21454453; 8282784; 1638023; 16463284 Phenotypes for gene: ITGA2B were set to Glanzmann thrombasthaenia 1, MIM# 273800; MONDO:000855; Bleeding disorder, platelet-type, 16, MIM# 187800