| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2204 | SACS | Elena Savva Classified gene: SACS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2204 | SACS | Elena Savva Gene: sacs has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2203 | SACS | Elena Savva Classified gene: SACS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2203 | SACS | Elena Savva Gene: sacs has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2202 | SACS | Elena Savva Marked gene: SACS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2202 | SACS | Elena Savva Gene: sacs has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2202 | SACS |
Elena Savva gene: SACS was added gene: SACS was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SACS were set to PMID: 27871429; 35386405 Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type MIM#270550 Review for gene: SACS was set to AMBER Added comment: PMID: 27871429 - two consanguinous families (8 affecteds) with homozygous PTCs. Epilepsy observed for all 4/4 members of a single family. Authors note seizures may be present in 10% of SACS patients PMID: 35386405 - Review of chinese patients, found 4/27 patients had epilepsy (one was questionable) Sources: Literature |
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