| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2312 | UBTF | Elena Savva Classified gene: UBTF as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2312 | UBTF | Elena Savva Gene: ubtf has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2312 | UBTF | Elena Savva Classified gene: UBTF as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2312 | UBTF | Elena Savva Gene: ubtf has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2311 | UBTF | Elena Savva Marked gene: UBTF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2311 | UBTF | Elena Savva Gene: ubtf has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2311 | UBTF |
Elena Savva gene: UBTF was added gene: UBTF was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: UBTF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: UBTF were set to PMID: 30517966 Phenotypes for gene: UBTF were set to Neurodegeneration, childhood-onset, with brain atrophy MIM#617672 Review for gene: UBTF was set to AMBER Added comment: PMID: 30517966 - recurring de novo missense p.Glu210Lys, observed in 11 probands with neurodegeneration. 3/11 had seizures. Paper had an additional proband with this variant and drug-resistant epilepsy. Sources: Literature |
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