Activity
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6 actions
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| DDG2P v6.194 | HCN1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: HCN1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | HCN1 | Achchuthan Shanmugasundram edited their review of gene: HCN1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HCN1-related epileptic encephalopathy, early infantile are definitive, monoallelic_autosomal and undetermined (PMID:24747641). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00411.; Changed phenotypes to: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24, OMIM:615871, OMIM:615871.0, MONDO:0014377, HCN1-related epileptic encephalopathy, early infantile | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HCN1 | Achchuthan Shanmugasundram reviewed gene: HCN1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24747641; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24, OMIM:615871; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HCN1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene HCN1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HCN1 | Rebecca Foulger reviewed gene: HCN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HCN1 |
Rebecca Foulger gene: HCN1 was added gene: HCN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HCN1 were set to 24747641 Phenotypes for gene: HCN1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 615871 Mode of pathogenicity for gene: HCN1 was set to Other - please provide details in the comments |
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