| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.1355 | KIF5A | Zornitza Stark Marked gene: KIF5A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1355 | KIF5A | Zornitza Stark Gene: kif5a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1355 | KIF5A | Zornitza Stark Classified gene: KIF5A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1355 | KIF5A | Zornitza Stark Gene: kif5a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1326 | KIF5A |
Ain Roesley gene: KIF5A was added gene: KIF5A was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF5A were set to 27414745; 33681666; 27463701 Phenotypes for gene: KIF5A were set to Myoclonus, intractable, neonatal MIM#617235 Penetrance for gene: KIF5A were set to Complete Review for gene: KIF5A was set to GREEN gene: KIF5A was marked as current diagnostic Added comment: PMID: 27414745 1x de novo with myoclonic seizures PMID: 33681666 1x de novo with epileptic spasm PMID: 27463701 2 unrelated patients who presented shortly after birth with nearly continuous nonrhythmic large-amplitude myoclonic jerks associated with intermittent apnea 2x de novo fs Sources: Literature |
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