Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.51 | AP2M1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: AP2M1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | AP2M1 | Achchuthan Shanmugasundram edited their review of gene: AP2M1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for AP2M1-related developmental and epileptic encephalopathy are strong, monoallelic_autosomal and undetermined (PMID:31104773). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02769.; Changed phenotypes to: MONDO:0032823, Developmental and Epileptic Encephalopathy, AP2M1-related developmental and epileptic encephalopathy, OMIM:618587.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AP2M1 | Achchuthan Shanmugasundram reviewed gene: AP2M1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31104773; Phenotypes: Developmental and Epileptic Encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | AP2M1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to AP2M1. Mode of pathogenicity for gene AP2M1 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 v1.130 | AP2M1 | Rebecca Foulger reviewed gene: AP2M1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.129 | AP2M1 |
Rebecca Foulger gene: AP2M1 was added gene: AP2M1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: AP2M1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AP2M1 were set to 31104773 Phenotypes for gene: AP2M1 were set to Developmental and Epileptic Encephalopathy Mode of pathogenicity for gene: AP2M1 was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||