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| DDG2P v6.332 | SCN4A | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SCN4A was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SCN4A | Achchuthan Shanmugasundram edited their review of gene: SCN4A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SCN4A-related hypokalemic periodic paralysis are definitive, monoallelic_autosomal and undetermined (PMIDs: 10599760, 10851391, 10944223, 11591859, 16890191). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00228. The DDG2P confidence category, allelic requirement and molecular mechanism for SCN4A-related hyperkalemic periodic paralysis are definitive, monoallelic_autosomal and gain of function (PMIDs: 15596759, 1659668, 1659948). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00392. The DDG2P confidence category, allelic requirement and molecular mechanism for SCN4A-related paramyotonia congenita of von Eulenburg are definitive, monoallelic_autosomal and undetermined (PMIDs: 10369308, 1310898, 1316765, 1338909, 17998485, 18203179, 19015483, 19015492, 8388676, 8580427). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00709.; Changed publications to: 1310898, 10369308, 16890191, 11591859, 19015492, 17998485, 1659668, 10851391, 18203179, 10944223, 19015483, 10599760, 8580427, 1338909, 1316765, 1659948, 15596759, 8388676; Changed phenotypes to: SCN4A-related paramyotonia congenita of von Eulenburg, SCN4A-related hypokalemic periodic paralysis, SCN4A-related hyperkalemic periodic paralysis, OMIM:613345.0, PARAMYOTONIA CONGENITA OF VON EULENBURG, OMIM:168300, HYPOKALEMIC PERIODIC PARALYSIS, OMIM:170400, HYPERKALEMIC PERIODIC PARALYSIS TYPE 1, OMIM:170500, OMIM:170500.0, MONDO:0013234, MONDO:0008224, OMIM:168300.0, MONDO:0008195 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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