Bleeding and Platelet Disorders
Gene: GP9

GP9 (glycoprotein IX platelet)
EnsemblGeneIds (GRCh38): ENSG00000169704
EnsemblGeneIds (GRCh37): ENSG00000169704
OMIM: 173515, Gene2Phenotype
GP9 is in 5 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.

At least 3 unrelated families reported, animal model.
Created: 3 Jun 2021, 6:56 a.m. | Last Modified: 3 Jun 2021, 6:56 a.m.

Panel Version: 0.269

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bernard-Soulier syndrome, type C, MIM# 231200

Publications

Created: 3 Jun 2021, 6:54 a.m.
Last Modified: 3 Jun 2021, 6:54 a.m.
Panel version: 0.269

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Bernard-Soulier syndrome, type C, MIM# 231200

OMIM

173515

Clinvar variants

Variants in GP9

Penetrance

None

Publications

Panels with this gene