| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2617 | CACNB4 | Zornitza Stark Marked gene: CACNB4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2617 | CACNB4 | Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2617 | CACNB4 | Zornitza Stark Classified gene: CACNB4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2617 | CACNB4 | Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2616 | CACNB4 |
Zornitza Stark gene: CACNB4 was added gene: CACNB4 was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: CACNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNB4 were set to 10762541; 35813387; 31056551; 22892567 Phenotypes for gene: CACNB4 were set to {Epilepsy, idiopathic generalized, susceptibility to, 9} 607682; {Epilepsy, juvenile myoclonic, susceptibility to, 6} 607682 Review for gene: CACNB4 was set to AMBER Added comment: Good biological candidate but may be a susceptibility locus. Some of the variants reported have relatively high frequencies in gnomAD, and others are reported as part of large cohort studies with little supporting information regarding pathogenicity. Sources: Expert list |
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