Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.144 | DIP2B | Achchuthan Shanmugasundram Mode of pathogenicity for gene: DIP2B was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DIP2B | Achchuthan Shanmugasundram edited their review of gene: DIP2B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DIP2B-related intellectual developmental disorder, FRA12A type are limited, monoallelic_autosomal and undetermined (PMID:17236128). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01009.; Changed phenotypes to: OMIM:136630.0, DIP2B-related intellectual developmental disorder, FRA12A type, MONDO:0007634, INTELLECTUAL DEVELOPMENTAL DISORDER, FRA12A TYPE, OMIM:136630 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DIP2B | Achchuthan Shanmugasundram reviewed gene: DIP2B: Rating: RED; Mode of pathogenicity: Other; Publications: 17236128; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, FRA12A TYPE, OMIM:136630; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DIP2B | Achchuthan Shanmugasundram Mode of pathogenicity for gene DIP2B was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DIP2B | Rebecca Foulger reviewed gene: DIP2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | DIP2B |
Rebecca Foulger gene: DIP2B was added gene: DIP2B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DIP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DIP2B were set to 17236128 Phenotypes for gene: DIP2B were set to MENTAL RETARDATION, FRA12A TYPE 136630 Mode of pathogenicity for gene: DIP2B was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||