Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.177 | GDF3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: GDF3 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | GDF3 | Achchuthan Shanmugasundram edited their review of gene: GDF3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GDF3-related multiple malformations are limited, monoallelic_autosomal and undetermined (PMIDs: 19864492, 29260090). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00932.; Changed publications to: 29260090, 19864492; Changed phenotypes to: GDF3-related multiple malformations, GDF3 multiple malformations, OMIM:613702, OMIM:613702.0, MONDO:0013375 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GDF3 | Achchuthan Shanmugasundram reviewed gene: GDF3: Rating: RED; Mode of pathogenicity: Other; Publications: 19864492, 29260090; Phenotypes: GDF3 multiple malformations, OMIM:613702; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GDF3 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene GDF3 was changed from Other - please provide details in the comments to Other Publications for gene: GDF3 were updated from to 19864492; 29260090 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GDF3 | Rebecca Foulger reviewed gene: GDF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GDF3 | Rebecca Foulger Added phenotypes MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 6 613703 for gene: GDF3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GDF3 | Rebecca Foulger Added phenotypes KLIPPEL-FEIL SYNDROME TYPE 3 613702 for gene: GDF3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GDF3 |
Rebecca Foulger gene: GDF3 was added gene: GDF3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: GDF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GDF3 were set to MICROPHTHALMIA ISOLATED TYPE 7 613704 Mode of pathogenicity for gene: GDF3 was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||