| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2160 | EIF2AK2 | Zornitza Stark Marked gene: EIF2AK2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2160 | EIF2AK2 | Zornitza Stark Gene: eif2ak2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2160 | EIF2AK2 | Zornitza Stark Classified gene: EIF2AK2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2160 | EIF2AK2 | Zornitza Stark Gene: eif2ak2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2149 | EIF2AK2 |
Andrew Fennell gene: EIF2AK2 was added gene: EIF2AK2 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EIF2AK2 were set to PMID: 32197074 Phenotypes for gene: EIF2AK2 were set to Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, MIM# 618877 Review for gene: EIF2AK2 was set to GREEN Added comment: PMID: 32197074 - Four individuals (50%) with seizures including GTCS, focal tonic, and focal complex types. PMID: 33236446 - a single individual with neonatal generalised tonic seizures, dystonia, significant ID and later spasticity. Sources: Literature |
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