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| DDG2P v3.12 | SCN4A | Achchuthan Shanmugasundram reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 1310898, 1316765, 10599760, 10851391, 16890191, 1338909, 8388676, 17998485, 1659668, 19015492, 8580427, 11591859, 10369308, 15596759, 18203179, 1659948, 19015483, 10944223; Phenotypes: HYPOKALEMIC PERIODIC PARALYSIS, OMIM:170400, HYPERKALEMIC PERIODIC PARALYSIS TYPE 1, OMIM:170500, PARAMYOTONIA CONGENITA OF VON EULENBURG, OMIM:168300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SCN4A |
Achchuthan Shanmugasundram Mode of pathogenicity for gene SCN4A was changed from Other - please provide details in the comments to Other Publications for gene: SCN4A were updated from 8388676; 17998485; 10369308; 8580427; 1316765; 18203179; 19015492; 1338909; 1310898; 19015483 to 1310898; 1316765; 10599760; 10851391; 16890191; 1338909; 8388676; 17998485; 1659668; 19015492; 8580427; 11591859; 10369308; 15596759; 18203179; 1659948; 19015483; 10944223 |
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| DDG2P v0.2 | SCN4A | Rebecca Foulger reviewed gene: SCN4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SCN4A |
Rebecca Foulger Added phenotypes PARAMYOTONIA CONGENITA OF VON EULENBURG 168300 for gene: SCN4A Publications for gene SCN4A were changed from 1659948; 15596759; 1659668 to 8388676; 17998485; 10369308; 8580427; 1316765; 18203179; 19015492; 1338909; 1310898; 19015483 |
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| DDG2P v0.1 | SCN4A |
Rebecca Foulger Added phenotypes HYPERKALEMIC PERIODIC PARALYSIS TYPE 1 170500 for gene: SCN4A Publications for gene SCN4A were changed from 16890191; 10851391; 10599760; 10944223; 11591859 to 1659948; 15596759; 1659668 |
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| DDG2P v0.1 | SCN4A |
Rebecca Foulger gene: SCN4A was added gene: SCN4A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SCN4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCN4A were set to 16890191; 10851391; 10599760; 10944223; 11591859 Phenotypes for gene: SCN4A were set to HYPOKALEMIC PERIODIC PARALYSIS 613345 Mode of pathogenicity for gene: SCN4A was set to Other - please provide details in the comments |
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