| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Genetic Epilepsy v0.2108 | PDE2A | Zornitza Stark Marked gene: PDE2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2108 | PDE2A | Zornitza Stark Gene: pde2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2108 | PDE2A | Zornitza Stark Classified gene: PDE2A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2108 | PDE2A | Zornitza Stark Gene: pde2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2107 | PDE2A | Zornitza Stark reviewed gene: PDE2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder with paroxysmal dyskinesia or seizures MIM#619150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2096 | PDE2A |
Lauren Rogers gene: PDE2A was added gene: PDE2A was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: PDE2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDE2A were set to 32467598; 32196122; 37317634 Phenotypes for gene: PDE2A were set to Intellectual developmental disorder with paroxysmal dyskinesia or seizures MIM#619150 Review for gene: PDE2A was set to AMBER Added comment: PMID: 32467598: In a case report of 2 unrelated families with childhood-onset refractory paroxysmal dyskinesia with cognitive impairment, one family had two affected siblings who had a homozygous p.(Gln394*) variant. The younger sibling having epilepsy (unclear in the other sibling). PMID: 32196122: A case report of 2 affected individuals from a consanguineous Iraqi family presenting with the atypical Rett phenotype with a homozygous c.323 + 1G > A variant. Both had epilepsy. PMID: 37317634: 6 Pakistani individuals from 3 families with paroxysmal dyskinesia, developmental delay, cognitive abnormalities, speech impairment, and seizures with variable disease onset. Seizures included tonic clonic/generalised, upper limb only or myoclonic pattern/focal seizures. All individuals had the same homozygous missense variant p.(Phe505Ser), called a founder variant. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||