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  2. Transplant Co-Morbidity Superpanel
  3. GP1BA
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Transplant Co-Morbidity Superpanel

Gene: GP1BA

Green List (high evidence)
GP1BA (glycoprotein Ib platelet alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000185245
EnsemblGeneIds (GRCh37): ENSG00000185245
OMIM: 606672, Gene2Phenotype
GP1BA is in 5 panels

0 reviews

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • MONDO:0007930
  • MONDO:0008332
  • Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200), AR (AR BSS)
  • von Willebrand disease, platelet-type, (MIM#177820), AD (VWD)
  • Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS)
OMIM
606672
Clinvar variants
Variants in GP1BA
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: GP1BA was added gene: GP1BA was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: GP1BA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GP1BA were set to 24934643 Phenotypes for gene: GP1BA were set to MONDO:0007930; MONDO:0008332; Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200), AR (AR BSS); von Willebrand disease, platelet-type, (MIM#177820), AD (VWD); Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS)