Activity
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6 actions
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| DDG2P v6.217 | KCNB1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNB1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | KCNB1 | Achchuthan Shanmugasundram edited their review of gene: KCNB1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KCNB1-related epileptic encephalopathy, early infantile are definitive, monoallelic_autosomal and undetermined (PMID:25164438). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01597.; Changed phenotypes to: KCNB1-related epileptic encephalopathy, early infantile, OMIM:616056.0, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26, OMIM:616056, MONDO:0014477 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNB1 | Achchuthan Shanmugasundram reviewed gene: KCNB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25164438; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26, OMIM:616056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KCNB1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene KCNB1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KCNB1 | Rebecca Foulger reviewed gene: KCNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | KCNB1 |
Rebecca Foulger gene: KCNB1 was added gene: KCNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNB1 were set to 25164438 Phenotypes for gene: KCNB1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 616056 Mode of pathogenicity for gene: KCNB1 was set to Other - please provide details in the comments |
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