| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Genetic Epilepsy v0.1062 | CAMK2A | Zornitza Stark Marked gene: CAMK2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1062 | CAMK2A | Zornitza Stark Gene: camk2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1062 | CAMK2A | Zornitza Stark Mode of pathogenicity for gene: CAMK2A was changed from None to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1061 | CAMK2A | Zornitza Stark Classified gene: CAMK2A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1061 | CAMK2A | Zornitza Stark Gene: camk2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1060 | CAMK2A |
Elena Savva edited their review of gene: CAMK2A: Added comment: Chia (2018): 2 hom sibs with a missense, carrier parents/sibs normal. Patients had ID and additional features of hypotonia, myoclonic seizures. Supported by functional work showing loss of function Isolated example of AR inheritance, all other reports are AD Rudolf (2020): 1 de novo missense patient with focal epilepsy of childhood, autism and ID Akita (2018): seizures reported in 3/5 patients with de novo variants. GOF through loss of autoinhibition-> constitutive activation Sources: Literature; Changed mode of pathogenicity: Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1060 | CAMK2A |
Elena Savva gene: CAMK2A was added gene: CAMK2A was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: CAMK2A was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: CAMK2A were set to PMID: 32600977; 29784083; 29560374 Phenotypes for gene: CAMK2A were set to ?Mental retardation, autosomal recessive 63 MIM#618095; Mental retardation, autosomal dominant 53 MIM#617798 Review for gene: CAMK2A was set to GREEN Added comment: Chia (2018): 2 hom sibs with a missense, supported by functional work, carrier parents/sibs normal. Patients had ID and additional features of hypotonia, myoclonic seizures. Isolated example of AR inheritance, all other reports are AD Rudolf (2020): 1 de novo missense patient with focal epilepsy of childhood, autism and ID Akita (2018): seizures reported in 3/5 patients with de novo variants Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||