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| Severe Paediatric Disorders v0.12 | SCN4A | Louise Daugherty reviewed gene: SCN4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | SCN4A | Louise Daugherty Publications for gene SCN4A were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | SCN4A | Louise Daugherty Added phenotypes Hyperkalemic periodic paralysis, type 2, 170500; Myasthenic syndrome, congenital, 16, 614198; Myotonia congenita, atypical, acetazolamide-responsive, 608390; Hypokalemic periodic paralysis, type 2, 613345; Paramyotonia congenita, 168300 for gene: SCN4A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | SCN4A | Louise Daugherty Added phenotypes Hyperkalemic periodic paralysis, type 2, 170500; Myasthenic syndrome, congenital, 16, 614198; Myotonia congenita, atypical, acetazolamide-responsive, 608390; Hypokalemic periodic paralysis, type 2, 613345; Paramyotonia congenita, 168300 for gene: SCN4A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | SCN4A | Louise Daugherty Added phenotypes Hyperkalemic periodic paralysis, type 2, 170500; Myasthenic syndrome, congenital, 16, 614198; Myotonia congenita, atypical, acetazolamide-responsive, 608390; Hypokalemic periodic paralysis, type 2, 613345; Paramyotonia congenita, 168300 for gene: SCN4A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | SCN4A | Louise Daugherty Added phenotypes Hypokalemic periodic paralysis, type 2, 613345; Myasthenic syndrome, congenital, 16, 614198; Paramyotonia congenita, 168300; Hyperkalemic periodic paralysis, type 2, 170500; Myotonia congenita, atypical, acetazolamide-responsive, 608390 for gene: SCN4A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | SCN4A |
Louise Daugherty Mode of inheritance for gene SCN4A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Hyperkalemic periodic paralysis, type 2, 170500; Myasthenic syndrome, congenital, 16, 614198; Myotonia congenita, atypical, acetazolamide-responsive, 608390; Hypokalemic periodic paralysis, type 2, 613345; Paramyotonia congenita, 168300 for gene: SCN4A |
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| Severe Paediatric Disorders v0.7 | SCN4A | Louise Daugherty Source Next Generation Children Project was added to SCN4A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | SCN4A |
Louise Daugherty Source Expert Review Green was added to SCN4A. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | SCN4A |
Louise Daugherty gene: SCN4A was added gene: SCN4A was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SCN4A was set to |
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