Activity
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6 actions
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| DDG2P v6.360 | SOX17 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SOX17 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SOX17 | Achchuthan Shanmugasundram edited their review of gene: SOX17: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SOX17-related vesicoureteral reflux are definitive, monoallelic_autosomal and undetermined (PMID:20960469). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00585.; Changed phenotypes to: MONDO:0013356, OMIM:613674.0, VESICOURETERAL REFLUX TYPE 3, OMIM:613674, SOX17-related vesicoureteral reflux | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SOX17 | Achchuthan Shanmugasundram reviewed gene: SOX17: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20960469; Phenotypes: VESICOURETERAL REFLUX TYPE 3, OMIM:613674; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SOX17 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SOX17 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SOX17 | Rebecca Foulger reviewed gene: SOX17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SOX17 |
Rebecca Foulger gene: SOX17 was added gene: SOX17 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SOX17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOX17 were set to 20960469 Phenotypes for gene: SOX17 were set to VESICOURETERAL REFLUX TYPE 3 613674 Mode of pathogenicity for gene: SOX17 was set to Other - please provide details in the comments |
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