Autoinflammatory disorders
Gene: GP6Comment 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 panelCreated: 16 Apr 2024, 2:18 p.m. | Last Modified: 16 Apr 2024, 2:18 p.m.
Panel Version: 1.13
Sources: Expert Review, LiteratureCreated: 19 Jun 2023, 1:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Platlet-type bleeding disorder-11
Publications
Phenotypes for gene: GP6 were changed from Platlet-type bleeding disorder-11 to Bleeding disorder, platelet-type, 11, OMIM:614201
Gene: gp6 has been classified as Red List (Low Evidence).
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