Inherited bleeding disorders
Gene: GP9EnsemblGeneIds (GRCh38): ENSG00000169704
EnsemblGeneIds (GRCh37): ENSG00000169704
OMIM: 173515, Gene2Phenotype
GP9 is in 3 panels
3 reviews
Louise Daugherty (Genomics England Curator)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bernard-Soulier syndrome
BRIDGE consortium (NIHRBR-RD)
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/231200Created: 7 Sep 2016, 7:47 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bernard-Soulier syndrome, type C
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- BRIDGE Study Tier 1 Gene
- Other
- Phenotypes
-
- Bernard-Soulier syndrome, type C
- 231200
- Bernard-Soulier syndrome
- OMIM
- 173515
- Clinvar variants
- Variants in GP9
- 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)GP9 was added to Inherited bleeding disorderspanel. Source: Expert Review Green
Added New Source
Ellen McDonagh (Genomics England Curator)GP9 was added to Inherited bleeding disorderspanel. Source: BRIDGE Study Tier 1 Gene
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for GP9 were set to Bernard-Soulier syndrome, type C;231200
Created
Ellen McDonagh (Genomics England Curator)GP9 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)GP9 was added to Inherited bleeding disorderspanel. Sources: Other