Activity
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| DDG2P v6.128 | CYFIP2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: CYFIP2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CYFIP2 | Achchuthan Shanmugasundram edited their review of gene: CYFIP2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CYFIP2-related epileptic encephalopathy, early infantile are definitive, monoallelic_autosomal and undetermined (PMIDs: 29534297, 29667327, 30664714, 31689829). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02991.; Changed phenotypes to: CYFIP2-related epileptic encephalopathy, early infantile, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, OMIM:618468, OMIM:618008.0, MONDO:0033374 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CYFIP2 | Achchuthan Shanmugasundram reviewed gene: CYFIP2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29534297, 31689829, 30664714, 29667327; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, OMIM:618468; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CYFIP2 |
Achchuthan Shanmugasundram gene: CYFIP2 was added gene: CYFIP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CYFIP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CYFIP2 were set to 29534297; 31689829; 30664714; 29667327 Phenotypes for gene: CYFIP2 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, OMIM:618468 Mode of pathogenicity for gene: CYFIP2 was set to Other |
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