Bleeding and Platelet Disorders
Gene: GP1BB

GP1BB (glycoprotein Ib platelet beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000203618
EnsemblGeneIds (GRCh37): ENSG00000203618
OMIM: 138720, Gene2Phenotype
GP1BB is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bernard-Soulier syndrome is a bleeding disorder caused by a defect in or deficiency of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib (GP Ib). GP Ib is composed of 4 subunits encoded by 4 separate genes: GP1BA, GP1BB, GP9, and GP5.

Multiple families reported with bi-allelic variants.. Note some mono-allelic variants reported associated with macrothrombocytopaenia.
Created: 3 Jun 2021, 6:39 a.m. | Last Modified: 3 Jun 2021, 6:39 a.m.

Panel Version: 0.263

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Bernard-Soulier syndrome, type B, MIM# 231200; Macrothrombocytopaenia

Publications

Created: 3 Jun 2021, 6:39 a.m.
Last Modified: 3 Jun 2021, 6:39 a.m.
Panel version: 0.263

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Bernard-Soulier syndrome, type B, MIM# 231200
Macrothrombocytopaenia

OMIM

138720

Clinvar variants

Variants in GP1BB

Penetrance

None

Publications

Panels with this gene