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Severe Paediatric Disorders v0.12 | SCN1B | Louise Daugherty reviewed gene: SCN1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | SCN1B | Louise Daugherty Publications for gene SCN1B were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | SCN1B | Louise Daugherty Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 1, 604233; Cardiac conduction defect, nonspecific, 612838; Epileptic encephalopathy, early infantile, 52, 617350; Atrial fibrillation, familial, 13, 615377; Brugada syndrome 5, 612838 for gene: SCN1B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | SCN1B | Louise Daugherty Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 1, 604233; Cardiac conduction defect, nonspecific, 612838; Epileptic encephalopathy, early infantile, 52, 617350; Atrial fibrillation, familial, 13, 615377; Brugada syndrome 5, 612838 for gene: SCN1B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | SCN1B | Louise Daugherty Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 1, 604233; Cardiac conduction defect, nonspecific, 612838; Epileptic encephalopathy, early infantile, 52, 617350; Atrial fibrillation, familial, 13, 615377; Brugada syndrome 5, 612838 for gene: SCN1B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | SCN1B | Louise Daugherty Added phenotypes Cardiac conduction defect, nonspecific, 612838; Epileptic encephalopathy, early infantile, 52, 617350; Epilepsy, generalized, with febrile seizures plus, type 1, 604233; Atrial fibrillation, familial, 13, 615377; Brugada syndrome 5, 612838 for gene: SCN1B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | SCN1B |
Louise Daugherty Mode of inheritance for gene SCN1B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 1, 604233; Cardiac conduction defect, nonspecific, 612838; Epileptic encephalopathy, early infantile, 52, 617350; Atrial fibrillation, familial, 13, 615377; Brugada syndrome 5, 612838 for gene: SCN1B |
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Severe Paediatric Disorders v0.7 | SCN1B | Louise Daugherty Source Next Generation Children Project was added to SCN1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | SCN1B |
Louise Daugherty Source Expert Review Green was added to SCN1B. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | SCN1B |
Louise Daugherty gene: SCN1B was added gene: SCN1B was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SCN1B was set to |