Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.59 | ASH1L | Achchuthan Shanmugasundram Mode of pathogenicity for gene: ASH1L was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ASH1L | Achchuthan Shanmugasundram edited their review of gene: ASH1L: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ASH1L-related intellectual disability are strong, monoallelic_autosomal and undetermined (PMIDs: 25961944, 28394464, 29276005, 29753921, 31673123, 34373061, 35241855). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01097.; Changed publications to: 28394464, 29753921, 29276005, 35241855, 31673123, 25961944, 34373061; Changed phenotypes to: ASH1L-related intellectual disability, OMIM:617796.0, MONDO:0030918, INTELLECTUAL DISABILITY, OMIM:616579 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASH1L | Achchuthan Shanmugasundram reviewed gene: ASH1L: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29276005, 29753921, 25961944, 28394464; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ASH1L |
Achchuthan Shanmugasundram Source Expert Review Green was added to ASH1L. Mode of pathogenicity for gene ASH1L was changed from Other - please provide details in the comments to Other Publications for gene: ASH1L were updated from 25961944; 28394464; 29753921; 29276005 to 29276005; 29753921; 25961944; 28394464 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ASH1L | Rebecca Foulger reviewed gene: ASH1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ASH1L |
Rebecca Foulger gene: ASH1L was added gene: ASH1L was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ASH1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ASH1L were set to 25961944; 28394464; 29753921; 29276005 Phenotypes for gene: ASH1L were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: ASH1L was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||