Activity
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7 actions
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| DDG2P v6.98 | CDK8 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: CDK8 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CDK8 | Achchuthan Shanmugasundram edited their review of gene: CDK8: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CDK8-related syndromic intellectual disability are definitive, monoallelic_autosomal and undetermined (PMID:30905399). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02783.; Changed phenotypes to: MONDO:0032897, SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100, CDK8-related syndromic intellectual disability, OMIM:618748.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDK8 | Achchuthan Shanmugasundram reviewed gene: CDK8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30905399; Phenotypes: SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CDK8 | Achchuthan Shanmugasundram Mode of pathogenicity for gene CDK8 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.5 | CDK8 | Rebecca Foulger Phenotypes for gene: CDK8 were changed from SYNDROMIC INTELLECTUAL DISABILITY 612100 to SYNDROMIC INTELLECTUAL DISABILITY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | CDK8 | Rebecca Foulger reviewed gene: CDK8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.129 | CDK8 |
Rebecca Foulger gene: CDK8 was added gene: CDK8 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: CDK8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDK8 were set to 30905399 Phenotypes for gene: CDK8 were set to SYNDROMIC INTELLECTUAL DISABILITY 612100 Mode of pathogenicity for gene: CDK8 was set to Other - please provide details in the comments |
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