Inherited bleeding disorders
Gene: GP1BA
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)
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
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)
Revised 19 December 2016
GP1BA was added to Inherited bleeding disorderspanel. Source: Expert Review Green
Model of inheritance for gene GP1BA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene GP1BA was set to BIALLELIC, autosomal or pseudoautosomal
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
Phenotypes for GP1BA were set to Bernard-Soulier syndrome, type A1 (recessive);231200
GP1BA was created by ellenmcdonagh
GP1BA was added to Inherited bleeding disorderspanel. Sources: Other