Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.231 | LAS1L | Achchuthan Shanmugasundram Mode of pathogenicity for gene: LAS1L was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | LAS1L | Achchuthan Shanmugasundram edited their review of gene: LAS1L: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LAS1L-related intellectual disability are limited, monoallelic_X_hemizygous and undetermined (PMIDs: 25644381, 34653234). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02010.; Changed phenotypes to: LAS1L-related intellectual disability, OMIM:309585.0, INTELLECTUAL DISABILITY, OMIM:616579 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LAS1L | Achchuthan Shanmugasundram reviewed gene: LAS1L: Rating: RED; Mode of pathogenicity: Other; Publications: 25644381, 34653234; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | LAS1L |
Achchuthan Shanmugasundram Mode of inheritance for gene LAS1L was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Mode of pathogenicity for gene LAS1L was changed from to Other Publications for gene: LAS1L were updated from 25644381 to 25644381; 34653234 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LAS1L | Rebecca Foulger reviewed gene: LAS1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LAS1L |
Rebecca Foulger gene: LAS1L was added gene: LAS1L was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: LAS1L was set to Publications for gene: LAS1L were set to 25644381 Phenotypes for gene: LAS1L were set to INTELLECTUAL DISABILITY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||