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  3. GP6
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Bleeding and Platelet Disorders

Gene: GP6

Green List (high evidence)
GP6 (glycoprotein VI platelet)
EnsemblGeneIds (GRCh38): ENSG00000088053
EnsemblGeneIds (GRCh37): ENSG00000088053
OMIM: 605546, Gene2Phenotype
GP6 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

A mild to moderate bleeding disorder caused by defective platelet activation and aggregation in response to collagen.

At least three unrelated families reported.
Created: 3 Jun 2021, 6:47 a.m. | Last Modified: 3 Jun 2021, 6:47 a.m.
Panel Version: 0.266

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bleeding disorder, platelet-type, 11, MIM# 614201; MONDO:0013623

Publications

Created: 3 Jun 2021, 6:47 a.m.
Last Modified: 3 Jun 2021, 6:47 a.m.
Panel version: 0.266

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bleeding disorder, platelet-type, 11, MIM# 614201
  • MONDO:0013623
OMIM
605546
Clinvar variants
Variants in GP6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gp6 has been classified as Green List (High Evidence).

3 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GP6 were changed from to Bleeding disorder, platelet-type, 11, MIM# 614201; MONDO:0013623

3 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GP6 were set to 19549989; 19552682; 23815599

3 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GP6 were set to

3 Jun 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GP6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GP6 was added gene: GP6 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GP6 was set to Unknown