| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Genetic Epilepsy v0.1973 | ACTB | Zornitza Stark Marked gene: ACTB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1973 | ACTB | Zornitza Stark Gene: actb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1973 | ACTB | Zornitza Stark Phenotypes for gene: ACTB were changed from Seizures; Epilepsy to Baraitser-Winter syndrome 1 243310 Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1972 | ACTB | Zornitza Stark Classified gene: ACTB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1972 | ACTB | Zornitza Stark Gene: actb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1950 | ACTB |
John Coleman gene: ACTB was added gene: ACTB was added to Genetic Epilepsy. Sources: Literature,Expert Review Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTB were set to (PMID:22366783,25052316,31970217) Phenotypes for gene: ACTB were set to Seizures; Epilepsy Review for gene: ACTB was set to GREEN Added comment: Missense variants cause gain of function and are associated with Baraitser-Winter syndrome. PTC variants result in haploinsufficiency (loss of function) and cause a similar, but distinct phenotype to Baraitser-Winter syndrome. Seizures reported in 50% of cases with ACTB (GENEREVIEWS). 9 individuals with Baraitser-Winter with epilepsy in one paper and 13 with epilepsy in another review. Estimated 50% with Baraitser-Winter with seizures. Seizures also reported in one case of the LOF distinctive Dystonia-deafness syndrome (Brazilian woman). Sources: Literature, Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||