Activity
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6 actions
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| DDG2P v6.413 | WNT5A | Achchuthan Shanmugasundram Mode of pathogenicity for gene: WNT5A was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | WNT5A | Achchuthan Shanmugasundram edited their review of gene: WNT5A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for WNT5A-related Robinow syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 19918918, 5771504). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01061.; Changed phenotypes to: OMIM:180700.0, WNT5A-related Robinow syndrome, WNT5A-RELATED ROBINOW SYNDROME, AUTOSOMAL DOMINANT, OMIM:180700, MONDO:0024455 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WNT5A | Achchuthan Shanmugasundram reviewed gene: WNT5A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19918918, 5771504; Phenotypes: WNT5A-RELATED ROBINOW SYNDROME, AUTOSOMAL DOMINANT, OMIM:180700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | WNT5A |
Achchuthan Shanmugasundram Mode of pathogenicity for gene WNT5A was changed from Other - please provide details in the comments to Other Publications for gene: WNT5A were updated from 5771504; 19918918 to 19918918; 5771504 |
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| DDG2P v0.2 | WNT5A | Rebecca Foulger reviewed gene: WNT5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | WNT5A |
Rebecca Foulger gene: WNT5A was added gene: WNT5A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WNT5A were set to 5771504; 19918918 Phenotypes for gene: WNT5A were set to WNT5A-RELATED ROBINOW SYNDROME, AUTOSOMAL DOMINANT 180700 Mode of pathogenicity for gene: WNT5A was set to Other - please provide details in the comments |
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