Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.234 | LIAS | Achchuthan Shanmugasundram Mode of pathogenicity for gene: LIAS was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | LIAS | Achchuthan Shanmugasundram edited their review of gene: LIAS: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LIAS-related neonatal-onset epilepsy, defective mitochondrial energy metabolism and glycine elevation are strong, biallelic_autosomal and undetermined (PMIDs: 22152680, 26108146). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02223.; Changed phenotypes to: OMIM:614462.0, MONDO:0013762, Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation, LIAS-related neonatal-onset epilepsy, defective mitochondrial energy metabolism and glycine elevation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LIAS | Achchuthan Shanmugasundram reviewed gene: LIAS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22152680, 26108146; Phenotypes: Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | LIAS |
Achchuthan Shanmugasundram Source Expert Review Green was added to LIAS. Mode of pathogenicity for gene LIAS 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 | LIAS | Rebecca Foulger reviewed gene: LIAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LIAS |
Rebecca Foulger gene: LIAS was added gene: LIAS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LIAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIAS were set to 22152680; 26108146 Phenotypes for gene: LIAS were set to Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation Mode of pathogenicity for gene: LIAS was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||