Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.154 | EIF4A3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: EIF4A3 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | EIF4A3 | Achchuthan Shanmugasundram edited their review of gene: EIF4A3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for EIF4A3-related Richieri-Costa-Pereira syndrome are definitive, biallelic_autosomal and undetermined (PMID:24360810). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01453.; Changed phenotypes to: MONDO:0009998, RICHIERI-COSTA-PEREIRA SYNDROME, OMIM:268305, EIF4A3-related Richieri-Costa-Pereira syndrome, OMIM:268305.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EIF4A3 | Achchuthan Shanmugasundram reviewed gene: EIF4A3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24360810; Phenotypes: RICHIERI-COSTA-PEREIRA SYNDROME, OMIM:268305; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | EIF4A3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene EIF4A3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EIF4A3 | Rebecca Foulger reviewed gene: EIF4A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | EIF4A3 |
Rebecca Foulger gene: EIF4A3 was added gene: EIF4A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EIF4A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF4A3 were set to 24360810 Phenotypes for gene: EIF4A3 were set to RICHIERI-COSTA-PEREIRA SYNDROME Mode of pathogenicity for gene: EIF4A3 was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||