Inherited bleeding disorders

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

3 reviews

Louise Daugherty (Genomics England Curator)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Bernard-Soulier syndrome (BIALLELIC, autosomal or pseudoautosomal); Platelet-type von Willebrand disease (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown)

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Bernard-Soulier syndrome (BIALLELIC, autosomal or pseudoautosomal); Platelet-type von Willebrand disease (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown)

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 A1 (recessive)

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 A1 (recessive)
  • 231200
  • Platelet-type von Willebrand disease
  • Bernard-Soulier syndrome
  • Bernard-Soulier syndrome (BIALLELIC, autosomal or pseudoautosomal)
  • Platelet-type von Willebrand disease (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown)
OMIM
606672
Clinvar variants
Variants in GP1BA
Penetrance
Complete
Panels with this gene

History Filter Activity

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)

GP1BA was added to Inherited bleeding disorderspanel. Source: Expert Review Green

9 Sep 2016, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GP1BA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

9 Sep 2016, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GP1BA was set to BIALLELIC, autosomal or pseudoautosomal

9 Sep 2016, Gel status: 0

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

GP1BA was added to Inherited bleeding disorderspanel. Source: BRIDGE Study Tier 1 Gene Model of inheritance for gene GP1BA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

7 Sep 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for GP1BA were set to Bernard-Soulier syndrome, type A1 (recessive);231200

7 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GP1BA was created by ellenmcdonagh

7 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GP1BA was added to Inherited bleeding disorderspanel. Sources: Other