Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.130 | DACT1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: DACT1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DACT1 | Achchuthan Shanmugasundram edited their review of gene: DACT1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DACT1-related multiple malformations of neural tube, ear, genitourinary and gastrointestinal systems are limited, monoallelic_autosomal and loss of function (PMIDs: 22610794, 28054444, 36066768). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02805.; Changed publications to: 36066768, 22610794, 28054444; Changed phenotypes to: OMIM:617466.0, Multiple malformations of neural tube, ear, genitourinary and gastrointestinal systems, DACT1-related multiple malformations of neural tube, ear, genitourinary and gastrointestinal systems, MONDO:0054582 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DACT1 | Achchuthan Shanmugasundram reviewed gene: DACT1: Rating: RED; Mode of pathogenicity: Other; Publications: 22610794, 36066768, 28054444; Phenotypes: Multiple malformations of neural tube, ear, genitourinary and gastrointestinal systems; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DACT1 |
Achchuthan Shanmugasundram Mode of inheritance for gene DACT1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mode of pathogenicity for gene DACT1 was changed from to Other Publications for gene: DACT1 were updated from 28054444; 22610794 to 22610794; 36066768; 28054444 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | DACT1 | Rebecca Foulger reviewed gene: DACT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.151 | DACT1 |
Rebecca Foulger gene: DACT1 was added gene: DACT1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: DACT1 was set to Publications for gene: DACT1 were set to 28054444; 22610794 Phenotypes for gene: DACT1 were set to Multiple malformations of neural tube, ear, genitourinary and gastrointestinal systems |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||