Activity
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5 actions
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| Genetic Epilepsy v0.2298 | TRIP12 | Elena Savva Marked gene: TRIP12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2298 | TRIP12 | Elena Savva Gene: trip12 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2298 | TRIP12 | Elena Savva Classified gene: TRIP12 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2298 | TRIP12 | Elena Savva Gene: trip12 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2297 | TRIP12 |
Elena Savva gene: TRIP12 was added gene: TRIP12 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: TRIP12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRIP12 were set to PMID: 36275919; 32424948 Phenotypes for gene: TRIP12 were set to Intellectual developmental disorder, autosomal dominant 49 MIM#617752 Review for gene: TRIP12 was set to AMBER Added comment: Seizures described as a rare feature in OMIM PMID: 36275919 - patient with GDD, hypotonia and intermittent seizures. De novo synonymous variant with proven splice outcome found. PMID: 32424948 - reviews, epilepsy observed in 21% (5/24) patients Sources: Literature |
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