Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Brain Channelopathies v0.68 | SCN1A | Zornitza Stark Marked gene: SCN1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Channelopathies v0.68 | SCN1A | Zornitza Stark Gene: scn1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Channelopathies v0.68 | SCN1A | Zornitza Stark Phenotypes for gene: SCN1A were changed from to Dravet syndrome 607208; Epilepsy, generalized, with febrile seizures plus, type 2 604403; Febrile seizures, familial, 3A 604403; Migraine, familial hemiplegic, 3 609634 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Channelopathies v0.67 | SCN1A | Zornitza Stark Mode of inheritance for gene: SCN1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Channelopathies v0.66 | SCN1A | Zornitza Stark reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dravet syndrome 607208, Epilepsy, generalized, with febrile seizures plus, type 2 604403, Febrile seizures, familial, 3A 604403, Migraine, familial hemiplegic, 3 609634; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Channelopathies v0.0 | SCN1A |
Zornitza Stark gene: SCN1A was added gene: SCN1A was added to Channelopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SCN1A was set to Unknown |