Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.96 | CDK13 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: CDK13 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CDK13 | Achchuthan Shanmugasundram edited their review of gene: CDK13: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CDK13-related syndromic intellectual disability with or without congenital heart disease are definitive, monoallelic_autosomal and undetermined (PMIDs: 27479907, 28807008, 29021403, 29222009, 29393965, 31883531, 35063350, 35651941, 36599938, 37351084). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01767.; Changed publications to: 35063350, 36599938, 28807008, 31883531, 29021403, 29222009, 27479907, 37351084, 29393965, 35651941; Changed phenotypes to: MONDO:0044302, CDK13-related syndromic intellectual disability with or without congenital heart disease, OMIM:617360.0, Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDK13 | Achchuthan Shanmugasundram reviewed gene: CDK13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27479907, 29021403, 29222009, 28807008, 29393965; Phenotypes: Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CDK13 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene CDK13 was changed from Other - please provide details in the comments to Other Publications for gene: CDK13 were updated from 27479907 to 27479907; 29222009; 29021403; 28807008; 29393965 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CDK13 | Rebecca Foulger reviewed gene: CDK13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CDK13 |
Rebecca Foulger gene: CDK13 was added gene: CDK13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CDK13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDK13 were set to 27479907 Phenotypes for gene: CDK13 were set to Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease Mode of pathogenicity for gene: CDK13 was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||