| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.1851 | UNC13A | Ain Roesley Marked gene: UNC13A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1851 | UNC13A | Ain Roesley Gene: unc13a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1851 | UNC13A | Ain Roesley Classified gene: UNC13A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1851 | UNC13A | Ain Roesley Gene: unc13a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1850 | UNC13A |
Ain Roesley gene: UNC13A was added gene: UNC13A was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: UNC13A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UNC13A were set to 28192369 Phenotypes for gene: UNC13A were set to neurodevelopmental disorder MONDO#0700092, UNC13A-related Penetrance for gene: UNC13A were set to Complete Review for gene: UNC13A was set to GREEN gene: UNC13A was marked as current diagnostic Added comment: Total of 3 probands with de novo Pro814Leu Clinvar (believed to be a different proband reported in Lipstein 2017 in whom regression was never observed) : Delayed speech and language development, Cerebellar ataxia, Tremor, Febrile seizure (within the age range of 3 months to 6 years), Developmental regression VCGS internal cohort: GDD, speech apraxia, febrile seizures, tremor, aortic root aneurysm, dilatation of the renal pelvis and Arnold-Chiari type I malformation Lipstein 2017: abnormal movements, developmental delay and autism Sources: Literature |
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