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IBMDx study

Gene: GP9

Green List (high evidence)
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: Imported from Bleeding and Platelet Disorders panel version 0.269

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bernard-Soulier syndrome (BSS)
OMIM
173515
Clinvar variants
Variants in GP9
Penetrance
None
Panels with this gene

History Filter Activity

10 Dec 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GP9 was added gene: GP9 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: GP9 was set to Unknown Phenotypes for gene: GP9 were set to Bernard-Soulier syndrome (BSS)