| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2209 | SHANK3 | Elena Savva Marked gene: SHANK3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2209 | SHANK3 | Elena Savva Gene: shank3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2209 | SHANK3 | Elena Savva Classified gene: SHANK3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2209 | SHANK3 | Elena Savva Gene: shank3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2209 | SHANK3 | Elena Savva Classified gene: SHANK3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2209 | SHANK3 | Elena Savva Gene: shank3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2208 | SHANK3 |
Elena Savva gene: SHANK3 was added gene: SHANK3 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SHANK3 were set to PMID: 37655421 Phenotypes for gene: SHANK3 were set to Phelan-McDermid syndrome MIM#606232 Review for gene: SHANK3 was set to GREEN Added comment: Seizures listed in OMIM, SHANK3 is often involved in a 22q13.3 deletion PMID: 37655421 - Proband with a PTC, presenting with epileptic seizures, impaired speech development PMID: 36967043 - large review, considered patients who had the 22q13.3 deletion as well as SNVs. Prevalence of epilepsy ranged from 17-70% in one study, 27% in another study and 41% in another. Seizure type was highly variable, ranging from atypical absent, tonic, atonic, tonic-clonic and myoclonic. Sources: Literature |
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