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IBMDx study

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

AD BSS are rare and milder than AR BSS. p.(Ala172Val), labeled as the “Bolzano” variant, is a common AD BSS variant. Variants for AD VWD are missense and lie within the beta-hairpin loop, exerting a GoF mechanism; with the exception of an inframe deletion 420_428del
Created: 20 Apr 2021, 8:19 a.m. | Last Modified: 20 Apr 2021, 8:19 a.m.
Panel Version: 0.216

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200), AR (AR BSS); von Willebrand disease, platelet-type, (MIM#177820), AD (VWD); MONDO:0008332; Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS); MONDO:0007930

Publications

Created: 20 Apr 2021, 8:19 a.m.
Last Modified: 20 Apr 2021, 8:19 a.m.
Panel version: Imported from Bleeding and Platelet Disorders panel version 0.216

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bernard-Soulier syndrome (BSS)
OMIM
606672
Clinvar variants
Variants in GP1BA
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: GP1BA was added gene: GP1BA was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: GP1BA was set to Unknown Phenotypes for gene: GP1BA were set to Bernard-Soulier syndrome (BSS)