Inherited bleeding disorders

Gene: GP9

Green List (high evidence)

GP9 (glycoprotein IX platelet)
EnsemblGeneIds (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)

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, 7:47 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

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)

GP9 was added to Inherited bleeding disorderspanel. Source: Expert Review Green

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GP9 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 GP9 were set to Bernard-Soulier syndrome, type C;231200

7 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GP9 was created by ellenmcdonagh

7 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GP9 was added to Inherited bleeding disorderspanel. Sources: Other