Inherited bleeding disorders
Gene: GP1BAEnsemblGeneIds (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)
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/231200Created: 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
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Revised 19 December 2016
Added New Source
Louise Daugherty (Genomics England Curator)GP1BA was added to Inherited bleeding disorderspanel. Source: Expert Review Green
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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene GP1BA was set to BIALLELIC, autosomal or pseudoautosomal
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
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for GP1BA were set to Bernard-Soulier syndrome, type A1 (recessive);231200
Created
Ellen McDonagh (Genomics England Curator)GP1BA was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)GP1BA was added to Inherited bleeding disorderspanel. Sources: Other