Activity
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6 actions
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| DDG2P v6.331 | SCN3A | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SCN3A was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SCN3A | Achchuthan Shanmugasundram edited their review of gene: SCN3A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SCN3A-related focal epilepsy are strong, monoallelic_autosomal and undetermined (PMIDs: 18242854, 24157691). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01652.; Changed phenotypes to: SCN3A-related focal epilepsy, OMIM:617935.0, MONDO:0054776, Focal epilepsy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCN3A | Achchuthan Shanmugasundram reviewed gene: SCN3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 18242854, 24157691; Phenotypes: Focal epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SCN3A |
Achchuthan Shanmugasundram Source Expert Review Green was added to SCN3A. Mode of pathogenicity for gene SCN3A was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | SCN3A | Rebecca Foulger reviewed gene: SCN3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SCN3A |
Rebecca Foulger gene: SCN3A was added gene: SCN3A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SCN3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCN3A were set to 18242854; 24157691 Phenotypes for gene: SCN3A were set to Focal epilepsy Mode of pathogenicity for gene: SCN3A was set to Other - please provide details in the comments |
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