Inherited bleeding disorders

Gene: GP6

Green List (high evidence)

GP6 (glycoprotein VI platelet)
EnsemblGeneIds (GRCh38): ENSG00000088053
EnsemblGeneIds (GRCh37): ENSG00000088053
OMIM: 605546, Gene2Phenotype
GP6 is in 2 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bleeding diathesis due to glycoprotein VI deficiency

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bleeding diathesis due to glycoprotein VI deficiency

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Bleeding diathesis due to glycoprotein VI deficiency
OMIM
605546
Clinvar variants
Variants in GP6
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)

GP6 was added to Inherited bleeding disorderspanel. Source: Expert Review Green

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GP6 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene

9 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GP6 was created by ellenmcdonagh