Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.126 | CUX2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: CUX2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CUX2 | Achchuthan Shanmugasundram edited their review of gene: CUX2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CUX2-related developmental epileptic encephalopathy are strong, monoallelic_autosomal and undetermined (PMID:29630738). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02420.; Changed phenotypes to: MONDO:0029138, OMIM:618141.0, CUX2-related developmental epileptic encephalopathy, Developmental epileptic encephalopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CUX2 | Achchuthan Shanmugasundram reviewed gene: CUX2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29630738; Phenotypes: Developmental epileptic encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CUX2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CUX2. Mode of pathogenicity for gene CUX2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CUX2 | Rebecca Foulger reviewed gene: CUX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CUX2 |
Rebecca Foulger gene: CUX2 was added gene: CUX2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CUX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CUX2 were set to 29630738 Phenotypes for gene: CUX2 were set to Developmental epileptic encephalopathy Mode of pathogenicity for gene: CUX2 was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||