Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.320 | DDX58 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: DDX58 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DDX58 | Achchuthan Shanmugasundram edited their review of gene: DDX58: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RIGI-related Singleton-Merten syndrome are limited, monoallelic_autosomal and undetermined (PMIDs: 25620203, 30574673). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01163.; Changed publications to: 30574673, 25620203; Changed phenotypes to: RIGI-related Singleton-Merten syndrome, MONDO:0014575, SINGLETON-MERTEN SYNDROME, OMIM:182250, OMIM:616298.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDX58 | Achchuthan Shanmugasundram reviewed gene: DDX58: Rating: RED; Mode of pathogenicity: Other; Publications: 25620203; Phenotypes: SINGLETON-MERTEN SYNDROME, OMIM:182250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DDX58 | Achchuthan Shanmugasundram Mode of pathogenicity for gene DDX58 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.83 | DDX58 | Eleanor Williams commented on gene: DDX58 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.83 | DDX58 | Eleanor Williams Tag new-gene-name tag was added to gene: DDX58. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DDX58 | Rebecca Foulger reviewed gene: DDX58: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | DDX58 |
Rebecca Foulger gene: DDX58 was added gene: DDX58 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DDX58 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DDX58 were set to 25620203 Phenotypes for gene: DDX58 were set to SINGLETON-MERTEN SYNDROME 182250 Mode of pathogenicity for gene: DDX58 was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||