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  2. Transplant Co-Morbidity Superpanel
  3. GP1BB
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Transplant Co-Morbidity Superpanel

Gene: GP1BB

Green List (high evidence)
GP1BB (glycoprotein Ib platelet beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000203618
EnsemblGeneIds (GRCh37): ENSG00000203618
OMIM: 138720, Gene2Phenotype
GP1BB is in 4 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
  • Macrothrombocytopaenia
  • Bernard-Soulier syndrome, type B, MIM# 231200
OMIM
138720
Clinvar variants
Variants in GP1BB
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: GP1BB was added gene: GP1BB was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: GP1BB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GP1BB were set to 33813986; 33657022; 11222377; 8703016; 10887115; 9116284; 33216977; 1730088; 31997307 Phenotypes for gene: GP1BB were set to Macrothrombocytopaenia; Bernard-Soulier syndrome, type B, MIM# 231200