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Severe Paediatric Disorders v0.12 | SCN1A | Louise Daugherty reviewed gene: SCN1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | SCN1A | Louise Daugherty Publications for gene SCN1A were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | SCN1A | Louise Daugherty Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 2, 604403; Febrile seizures, familial, 3A, 604403; Migraine, familial hemiplegic, 3, 609634; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208 for gene: SCN1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | SCN1A | Louise Daugherty Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 2, 604403; Febrile seizures, familial, 3A, 604403; Migraine, familial hemiplegic, 3, 609634; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208 for gene: SCN1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | SCN1A | Louise Daugherty Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 2, 604403; Febrile seizures, familial, 3A, 604403; Migraine, familial hemiplegic, 3, 609634; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208 for gene: SCN1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | SCN1A | Louise Daugherty Added phenotypes Febrile seizures, familial, 3A, 604403; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208; Migraine, familial hemiplegic, 3, 609634; Epilepsy, generalized, with febrile seizures plus, type 2, 604403 for gene: SCN1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | SCN1A |
Louise Daugherty Mode of inheritance for gene SCN1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 2, 604403; Febrile seizures, familial, 3A, 604403; Migraine, familial hemiplegic, 3, 609634; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208 for gene: SCN1A |
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Severe Paediatric Disorders v0.7 | SCN1A | Louise Daugherty Source Next Generation Children Project was added to SCN1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | SCN1A |
Louise Daugherty Source Expert Review Green was added to SCN1A. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | SCN1A |
Louise Daugherty gene: SCN1A was added gene: SCN1A was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SCN1A was set to |