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| Severe Paediatric Disorders v0.12 | SCN8A | Louise Daugherty reviewed gene: SCN8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | SCN8A | Louise Daugherty Publications for gene SCN8A were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | SCN8A | Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 13, 614558; ?Myoclonus, familial, 2, 618364; Seizures, benign familial infantile, 5, 617080; Cognitive impairment with or without cerebellar ataxia, 614306 for gene: SCN8A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | SCN8A | Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 13, 614558; ?Myoclonus, familial, 2, 618364; Seizures, benign familial infantile, 5, 617080; Cognitive impairment with or without cerebellar ataxia, 614306 for gene: SCN8A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | SCN8A | Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 13, 614558; ?Myoclonus, familial, 2, 618364; Seizures, benign familial infantile, 5, 617080; Cognitive impairment with or without cerebellar ataxia, 614306 for gene: SCN8A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | SCN8A | Louise Daugherty Added phenotypes ?Myoclonus, familial, 2, 618364; Seizures, benign familial infantile, 5, 617080; Epileptic encephalopathy, early infantile, 13, 614558; Cognitive impairment with or without cerebellar ataxia, 614306 for gene: SCN8A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | SCN8A |
Louise Daugherty Mode of inheritance for gene SCN8A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Epileptic encephalopathy, early infantile, 13, 614558; ?Myoclonus, familial, 2, 618364; Seizures, benign familial infantile, 5, 617080; Cognitive impairment with or without cerebellar ataxia, 614306 for gene: SCN8A |
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| Severe Paediatric Disorders v0.7 | SCN8A | Louise Daugherty Source Next Generation Children Project was added to SCN8A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | SCN8A |
Louise Daugherty Source Expert Review Green was added to SCN8A. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | SCN8A |
Louise Daugherty gene: SCN8A was added gene: SCN8A was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SCN8A was set to |
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