Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.414 | WNT7A | Achchuthan Shanmugasundram Mode of pathogenicity for gene: WNT7A was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | WNT7A | Achchuthan Shanmugasundram edited their review of gene: WNT7A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for WNT7A- related skeletal malformations syndrome are definitive, biallelic_autosomal and undetermined (PMIDs: 16826533, 20949531, 21271649, 21344627, 9128926). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00391.; Changed publications to: 21344627, 20949531, 9128926, 16826533, 21271649; Changed phenotypes to: OMIM:228930.0, WNT7A- related skeletal malformations syndrome, WNT7A- associated skeletal malformations syndrome, OMIM:228930 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WNT7A | Achchuthan Shanmugasundram reviewed gene: WNT7A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9128926, 20949531, 21344627, 21271649, 16826533; Phenotypes: WNT7A- associated skeletal malformations syndrome, OMIM:228930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | WNT7A |
Achchuthan Shanmugasundram Mode of pathogenicity for gene WNT7A was changed from Other - please provide details in the comments to Other Publications for gene: WNT7A were updated from 16826533; 21271649; 21344627; 20949531 to 9128926; 20949531; 21344627; 21271649; 16826533 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | WNT7A | Rebecca Foulger reviewed gene: WNT7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | WNT7A |
Rebecca Foulger Added phenotypes LIMB/PELVIS-HYPOPLASIA/APLASIA SYNDROME 276820 for gene: WNT7A Publications for gene WNT7A were changed from 9128926 to 16826533; 21271649; 21344627; 20949531 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | WNT7A |
Rebecca Foulger gene: WNT7A was added gene: WNT7A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WNT7A were set to 9128926 Phenotypes for gene: WNT7A were set to FUHRMANN SYNDROME 228930 Mode of pathogenicity for gene: WNT7A was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||