| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Autoinflammatory disorders v1.14 | GP6 | Arina Puzriakova Phenotypes for gene: GP6 were changed from Platlet-type bleeding disorder-11 to Bleeding disorder, platelet-type, 11, OMIM:614201 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v1.13 | GP6 | Arina Puzriakova Classified gene: GP6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v1.13 | GP6 | Arina Puzriakova Added comment: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v1.13 | GP6 | Arina Puzriakova Gene: gp6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v1.1 | GP6 |
Lauma Freimane 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 Added comment: Sources: Expert Review, Literature |
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