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  3. GP6
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Autoinflammatory disorders

Gene: GP6

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added to this panel by Lauma Freimane (Children's Clinical University Hospital). Biallelic variants are associated with bleeding disorder caused by defective platelet activation and aggregation in response to collagen. Could not find evidence of an autoinflammatory component observed in patients and therefore rating as Red on this panel
Created: 16 Apr 2024, 2:18 p.m. | Last Modified: 16 Apr 2024, 2:18 p.m.
Panel Version: 1.13
Created: 16 Apr 2024, 2:18 p.m.
Last Modified: 16 Apr 2024, 2:18 p.m.
Panel version: 1.13

Lauma Freimane (Children's Clinical University Hospital)

Green List (high evidence)

Sources: Expert Review, Literature
Created: 19 Jun 2023, 1:25 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Platlet-type bleeding disorder-11

Publications

Created: 19 Jun 2023, 1:25 p.m.

Panel version: 1.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Bleeding disorder, platelet-type, 11, OMIM:614201
OMIM
605546
Clinvar variants
Variants in GP6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Apr 2024, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: GP6 were changed from Platlet-type bleeding disorder-11 to Bleeding disorder, platelet-type, 11, OMIM:614201

16 Apr 2024, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: gp6 has been classified as Red List (Low Evidence).

19 Jun 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Lauma Freimane (Children's Clinical University Hospital)

gene: GP6 was added gene: GP6 was added to Autoinflammatory disorders. Sources: Expert Review,Literature Mode of inheritance for gene: GP6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GP6 were set to 32098966 Phenotypes for gene: GP6 were set to Platlet-type bleeding disorder-11 Review for gene: GP6 was set to GREEN