Inherited bleeding disorders
Gene: GP1BB

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

3 reviews

Louise Daugherty (Genomics England Curator)

Comment on mode of inheritance: PMID:28064200 Evidence for monoallellic inheritance for Macrothrombocytopenia
Created: 26 Jul 2017, 4:39 p.m.

Comment on phenotypes: added macrothrombocytopenia (AD) PMID: 28064200, evidence for more than three unrelated families
Created: 26 Jul 2017, 4:37 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bernard-Soulier syndrome

Created: 19 Dec 2016, 11:31 a.m.

Panel version: 0.18

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bernard-Soulier syndrome

Variants in this GENE are reported as part of current diagnostic practice

Created: 19 Dec 2016, 11:18 a.m.

Panel version: 0.17

Ellen McDonagh (Genomics England Curator)

Sourced from OMIM: http://omim.org/entry/231200
Created: 7 Sep 2016, 7:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bernard-Soulier syndrome, type B

Created: 7 Sep 2016, 7:49 a.m.

Panel version: 0.3

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
BRIDGE Study Tier 1 Gene
Other

Phenotypes

Bernard-Soulier syndrome, type B, OMIM:231200
Giant platelet disorder, isolated, OMIM:231200
Macrothrombocytopenia

OMIM

138720

Clinvar variants

Variants in GP1BB

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

20 Apr 2022, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: GP1BB were set to 9116284; 10887115; 8703016; 28064200

20 Apr 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: GP1BB were changed from Bernard-Soulier syndrome, type B (BIALLELIC, autosomal or pseudoautosomal); Giant platelet disorder, isolated (AR); 231200; Bernard-Soulier syndrome; Macrothrombocytopenia (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown) to Bernard-Soulier syndrome, type B, OMIM:231200; Giant platelet disorder, isolated, OMIM:231200; Macrothrombocytopenia

26 Jul 2017, Gel status: 4