| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v1.125 | ATP11A | Bryony Thompson Marked gene: ATP11A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.125 | ATP11A | Bryony Thompson Gene: atp11a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.125 | ATP11A | Bryony Thompson Classified gene: ATP11A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.125 | ATP11A | Bryony Thompson Gene: atp11a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.124 | ATP11A |
Sangavi Sivagnanasundram gene: ATP11A was added gene: ATP11A was added to Genetic Epilepsy. Sources: Other Mode of inheritance for gene: ATP11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP11A were set to 40185629 Phenotypes for gene: ATP11A were set to Focal Epilepsy MONDO:0005384 Review for gene: ATP11A was set to AMBER Added comment: PMID: 40185629 - Two chinese individuals reported with refractory focal epilepsy De novo missense variants were identified in the two unrelated probands of chinese descent Case 1 - female patient experiencing epileptic seizures from the age of 4 - Lys812Ile Case 2 - male patient experienceing epileptic seizures from the age of 7 - Trp1036Cys Sources: Other |
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