Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.160 | FBLN1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: FBLN1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | FBLN1 | Achchuthan Shanmugasundram edited their review of gene: FBLN1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FBLN1-related synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses are limited, biallelic_autosomal and undetermined (PMID:11836357). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00356.; Changed publications to: 11836357; Changed phenotypes to: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, OMIM:608180, FBLN1-related synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses, MONDO:0011984, OMIM:608180.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FBLN1 | Achchuthan Shanmugasundram reviewed gene: FBLN1: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, OMIM:608180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | FBLN1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene FBLN1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FBLN1 | Rebecca Foulger reviewed gene: FBLN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FBLN1 |
Rebecca Foulger gene: FBLN1 was added gene: FBLN1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: FBLN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FBLN1 were set to SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES 608180 Mode of pathogenicity for gene: FBLN1 was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||