Inherited bleeding disorders

Gene: GP1BB

Green List (high evidence)

GP1BB (glycoprotein Ib platelet beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000203618
EnsemblGeneIds (GRCh37): ENSG00000203618
OMIM: 138720, Gene2Phenotype
GP1BB is in 4 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

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

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

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 (BIALLELIC, autosomal or pseudoautosomal)
  • Giant platelet disorder, isolated (AR)
  • 231200
  • Bernard-Soulier syndrome
  • Macrothrombocytopenia (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown)
OMIM
138720
Clinvar variants
Variants in GP1BB
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for GP1BB were set to 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)

26 Jul 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

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

26 Jul 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

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

26 Jul 2017, Gel status: 4

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for GP1BB was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

26 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for GP1BB were set to Bernard-Soulier syndrome, type B (AR); Giant platelet disorder, isolated (AR); 231200; Bernard-Soulier syndrome; Macrothrombocytopenia (AD)

26 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for GP1BB were set to Bernard-Soulier syndrome, type B; Giant platelet disorder, isolated; 231200; Bernard-Soulier syndrome;Macrothrombocytopenia

19 Dec 2016, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

GP1BB was added to Inherited bleeding disorderspanel. Source: Expert Review Green

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GP1BB was added to Inherited bleeding disorderspanel. Source: BRIDGE Study Tier 1 Gene

7 Sep 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for GP1BB were set to Bernard-Soulier syndrome, type B;Giant platelet disorder, isolated;231200

7 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GP1BB was added to Inherited bleeding disorderspanel. Sources: Other

7 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GP1BB was created by ellenmcdonagh