| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Familial Generalised Epilepsy v0.11 | SCN9A | Bryony Thompson Marked gene: SCN9A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial Generalised Epilepsy v0.11 | SCN9A | Bryony Thompson Gene: scn9a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial Generalised Epilepsy v0.11 | SCN9A | Bryony Thompson Classified gene: SCN9A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial Generalised Epilepsy v0.11 | SCN9A | Bryony Thompson Added comment: Comment on list classification: ClinGen Epilepsy GCEP curated gene-disease association with epilepsy: A novel publication provides evidence against pathogenicity for a previously reported variant providing the primary evidence for an association with epilepsy. Classification - 03/09/2021 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial Generalised Epilepsy v0.11 | SCN9A | Bryony Thompson Gene: scn9a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial Generalised Epilepsy v0.0 | SCN9A |
Bryony Thompson gene: SCN9A was added gene: SCN9A was added to Familial Generalised Epilepsy. Sources: Expert Review Green,GREP Mode of inheritance for gene: SCN9A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SCN9A were set to {Dravet syndrome, modifier of} 607208; Epilepsy, generalized, with febrile seizures plus, type 7 613863; Febrile seizures, familial, 3B 613863 |
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