Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Genetic Epilepsy v0.2290 | TNRC6A | Zornitza Stark Marked gene: TNRC6A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.2290 | TNRC6A | Zornitza Stark Gene: tnrc6a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.2290 | TNRC6A | Zornitza Stark Phenotypes for gene: TNRC6A were changed from ?Epilepsy, familial adult myoclonic, 6 MIM#618074 to Epilepsy, familial adult myoclonic, 6 MIM#618074 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.2289 | TNRC6A |
Elena Savva gene: TNRC6A was added gene: TNRC6A was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: TNRC6A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TNRC6A were set to PMID: 29507423; 33040085 Phenotypes for gene: TNRC6A were set to ?Epilepsy, familial adult myoclonic, 6 MIM#618074 Review for gene: TNRC6A was set to RED Added comment: PMID: 29507423;33040085 - intronic expansion in a cohort with familial myoclonic epilepsy, also observed in controls but enriched in the affect cohort. Gene was listed in the Oliver list Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.2289 | TNRC6A |
Elena Savva gene: TNRC6A was added gene: TNRC6A was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: TNRC6A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TNRC6A were set to PMID: 29507423; 33040085 Phenotypes for gene: TNRC6A were set to ?Epilepsy, familial adult myoclonic, 6 MIM#618074 Review for gene: TNRC6A was set to RED Added comment: PMID: 29507423;33040085 - intronic expansion in a cohort with familial myoclonic epilepsy, also observed in controls but enriched in the affect cohort. Gene was listed in the Oliver list Sources: Literature |