Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.166 | FOXE1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: FOXE1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | FOXE1 | Achchuthan Shanmugasundram edited their review of gene: FOXE1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FOXE1-related Bamforth-Lazarus syndrome are definitive, biallelic_autosomal and undetermined (PMIDs: 16882747, 35963604, 9697705). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00542.; Changed publications to: 35963604, 9697705, 16882747; Changed phenotypes to: MONDO:0009437, BAMFORTH-LAZARUS SYNDROME, OMIM:241850, OMIM:241850.0, FOXE1-related Bamforth-Lazarus syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOXE1 | Achchuthan Shanmugasundram reviewed gene: FOXE1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: BAMFORTH-LAZARUS SYNDROME, OMIM:241850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | FOXE1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene FOXE1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FOXE1 | Rebecca Foulger reviewed gene: FOXE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FOXE1 |
Rebecca Foulger gene: FOXE1 was added gene: FOXE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FOXE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FOXE1 were set to BAMFORTH-LAZARUS SYNDROME 241850 Mode of pathogenicity for gene: FOXE1 was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||