Activity
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4 actions
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| DDG2P v6.97 | CDK19 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: CDK19 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CDK19 | Achchuthan Shanmugasundram edited their review of gene: CDK19: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CDK19-related intellectual disability and epileptic encephalopathy are strong, monoallelic_autosomal and undetermined (PMID:32330417). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02961.; Changed phenotypes to: CDK19-associated Intellectual Disability and Epileptic Encephalopathy, CDK19-related intellectual disability and epileptic encephalopathy, OMIM:618916.0, MONDO:0030059 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDK19 | Achchuthan Shanmugasundram reviewed gene: CDK19: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32330417; Phenotypes: CDK19-associated Intellectual Disability and Epileptic Encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CDK19 |
Achchuthan Shanmugasundram gene: CDK19 was added gene: CDK19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CDK19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDK19 were set to 32330417 Phenotypes for gene: CDK19 were set to CDK19-associated Intellectual Disability and Epileptic Encephalopathy Mode of pathogenicity for gene: CDK19 was set to Other |
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