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Newborns main panel

Gene: GP1BB

Green List (high evidence)
GP1BB (glycoprotein Ib platelet beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000203618
EnsemblGeneIds (GRCh37): ENSG00000203618
OMIM: 138720, Gene2Phenotype
GP1BB is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Other phenotypes with same MOI not included.

Additional Information: Bernard-Soulier syndrome is included in the study. This gene is also associated with AR isolated giant platelet disorder which is not included in the study.
Created: 26 Sep 2024, 3:28 p.m. | Last Modified: 19 Nov 2025, 1 p.m.
Panel Version: 0.480
Special Consideration: VCEP - a ClinGen Variant Review Expert Panel (VCEP) has produced specifications to the ACMP/AMP variant interpretation guidelines for this gene.

Additional Information: Link to Platelet Disorders Variant Curation Expert Panel (VCEP) - https://www.clinicalgenome.org/affiliation/50040/
Created: 26 Sep 2024, 3:27 p.m. | Last Modified: 26 Sep 2024, 3:27 p.m.
Panel Version: 0.469
Created: 26 Sep 2024, 3:27 p.m.
Last Modified: 19 Nov 2025, 1 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 10 Oct 2023, 2:48 p.m. | Last Modified: 10 Oct 2023, 2:48 p.m.
Panel Version: 0.247
GP1BB curation results (clinicalgenome.org)
Created: 14 Sep 2023, 11:02 a.m. | Last Modified: 14 Sep 2023, 11:02 a.m.
Panel Version: 0.238
Created: 14 Sep 2023, 11:02 a.m.
Last Modified: 14 Sep 2023, 11:02 a.m.
Panel version: 0.247

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Bernard-Soulier syndrome, type B
Tags
special_consideration
OMIM
138720
Clinvar variants
Variants in GP1BB
Penetrance
None
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: GP1BB.

14 Sep 2023, Gel status: 3

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

Mafalda Gomes (Genomics England Curator)

gene: GP1BB was added gene: GP1BB was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: GP1BB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GP1BB were set to Bernard-Soulier syndrome, type B