Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.161 | FBXW4 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: FBXW4 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | FBXW4 | Achchuthan Shanmugasundram edited their review of gene: FBXW4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FBXW4-related split-hand and foot malformation are limited, monoallelic_autosomal and undetermined (PMIDs: 12913067, 12974740, 16691619, 16761290, 29263051, 38250576). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00400.; Changed publications to: 12913067, 38250576, 29263051, 16691619, 16761290, 12974740; Changed phenotypes to: MONDO:0009525, FBXW4-related split-hand and foot malformation, SPLIT-HAND/FOOT MALFORMATION TYPE 3, OMIM:246560, OMIM:246560.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FBXW4 | Achchuthan Shanmugasundram reviewed gene: FBXW4: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: SPLIT-HAND/FOOT MALFORMATION TYPE 3, OMIM:246560; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.8 | FBXW4 | Rebecca Foulger Mode of pathogenicity for gene: FBXW4 was changed from part of contiguous gene duplication to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FBXW4 | Rebecca Foulger reviewed gene: FBXW4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FBXW4 |
Rebecca Foulger gene: FBXW4 was added gene: FBXW4 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: FBXW4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FBXW4 were set to SPLIT-HAND/FOOT MALFORMATION TYPE 3 246560 Mode of pathogenicity for gene: FBXW4 was set to part of contiguous gene duplication |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||