| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2292 | TPK1 | Elena Savva Marked gene: TPK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2292 | TPK1 | Elena Savva Gene: tpk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2292 | TPK1 | Elena Savva Classified gene: TPK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2292 | TPK1 | Elena Savva Gene: tpk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2291 | TPK1 |
Elena Savva gene: TPK1 was added gene: TPK1 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: TPK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TPK1 were set to PMID: 37622082 Phenotypes for gene: TPK1 were set to Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) MIM#614458 Review for gene: TPK1 was set to GREEN Added comment: PMID: 37622082 - proband 1 had a single convulsive seizure after fever, rashes. Diagnosed with leigh syndrome. Was chet for a PTC and missense. - proband 2 had frequent tonic seizures, Was chet for a PTC and missense. Review of literature found seizure (10/28, 35.71%) of reported cases Sources: Literature |
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