| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2253 | PRDM8 | Zornitza Stark Marked gene: PRDM8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2253 | PRDM8 | Zornitza Stark Gene: prdm8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2253 | PRDM8 | Zornitza Stark Classified gene: PRDM8 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2253 | PRDM8 | Zornitza Stark Gene: prdm8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2252 | PRDM8 | Zornitza Stark Classified gene: PRDM8 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2252 | PRDM8 | Zornitza Stark Gene: prdm8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2149 | PRDM8 |
Chris Ciotta gene: PRDM8 was added gene: PRDM8 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: PRDM8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRDM8 were set to PMID: 2296154; 35034233 Phenotypes for gene: PRDM8 were set to ?Epilepsy, progressive myoclonic, 10 MIM#616640 Review for gene: PRDM8 was set to RED Added comment: - PMID:22961547, 3 individuals from one family, all with myoclonic epilepsy, all had the Phe261Leu variant. This variant is absent from gnomAD V4. - PMID: 35034233, Two individuals from one family, no clinical seizures but presented with myoclonus and abnormal EEG (generalised epileptiform charges), these individuals had the Ala230Gly missense change, which has currently been reported as a VUS. Sources: Literature |
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