| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2211 | SLC19A3 | Elena Savva Marked gene: SLC19A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2211 | SLC19A3 | Elena Savva Gene: slc19a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2211 | SLC19A3 | Elena Savva Classified gene: SLC19A3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2211 | SLC19A3 | Elena Savva Gene: slc19a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2210 | SLC19A3 |
Elena Savva gene: SLC19A3 was added gene: SLC19A3 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC19A3 were set to PMID: 37670342; 23269594; 26863430 Phenotypes for gene: SLC19A3 were set to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) MIM#607483 Review for gene: SLC19A3 was set to GREEN Added comment: Seizures noted in OMIM PMID: 37670342 - 1/21 probands had absence seizure on Depakene. Hom missense but many families in this paper had the same variant (likely founder). PMID: 23269594 - 8/10 patients had acute-subacute onset consisting of ataxia, seizures, and encephalopathy. All probands had the same recurring missense described in PMID: 37670342. PMID: 26863430 - two siblings with early-onset encephalopathy dystonia and epilepsy, Sources: Literature |
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