| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Inherited bleeding disorders v1.130 | CDC42 | Louise Daugherty Tag de novo tag was added to gene: CDC42. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.130 | CDC42 | Louise Daugherty Classified gene: CDC42 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.130 | CDC42 | Louise Daugherty Added comment: Comment on list classification: New gene from NIHRRD-BR BRIDGE Bleeding and Platelet Disorders project, enough evidence in the literature to support gene-disease association and relevance to this panel to rate this gene Green. At least 17 unrelated individuals with de novo variants have been reported in the literature | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.130 | CDC42 | Louise Daugherty Gene: cdc42 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.128 | CDC42 | Louise Daugherty Phenotypes for gene: CDC42 were changed from to Takenouchi-Kosaki syndrome, 616737; Platelet disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.127 | CDC42 | Louise Daugherty Added comment: Comment on publications: Added publications suggested to support upgrading of the gene to Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.127 | CDC42 | Louise Daugherty Publications for gene: CDC42 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.126 | CDC42 |
Louise Daugherty gene: CDC42 was added gene: CDC42 was added to Inherited bleeding disorders. Sources: Expert list,Literature Mode of inheritance for gene: CDC42 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Review for gene: CDC42 was set to GREEN Added comment: New bleeding, platelet, coagulation and thrombotic disorder Tier 1 reportable gene from NIHRRD-BR BRIDGE project, announced at ISTH-SCC meeting Dublin 2018. Sources: Expert list, Literature |
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