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| DDG2P v6.413 | WNT4 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: WNT4 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | WNT4 | Achchuthan Shanmugasundram edited their review of gene: WNT4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for WNT4-related SERKAL syndrome are strong, biallelic_autosomal and undetermined (PMID:18179883). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00183. The DDG2P confidence category, allelic requirement and molecular mechanism for WNT4-related mullerian aplasia and hyperandrogenism are strong, monoallelic_autosomal and undetermined (PMID:15317892). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01570.; Changed phenotypes to: SERKAL SYNDROME, OMIM:611812, MONDO:0012734, WNT4-related mullerian aplasia and hyperandrogenism, MONDO:0008019, OMIM:611812.0, MULLERIAN APLASIA AND HYPERANDROGENISM, OMIM:158330, OMIM:158330.0, WNT4-related SERKAL syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WNT4 | Achchuthan Shanmugasundram reviewed gene: WNT4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 18179883, 15317892; Phenotypes: MULLERIAN APLASIA AND HYPERANDROGENISM, OMIM:158330, SERKAL SYNDROME, OMIM:611812; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | WNT4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to WNT4. Mode of pathogenicity for gene WNT4 was changed from Other - please provide details in the comments to Other Publications for gene: WNT4 were updated from 15317892 to 18179883; 15317892 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | WNT4 | Rebecca Foulger reviewed gene: WNT4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | WNT4 |
Rebecca Foulger Added phenotypes MULLERIAN APLASIA AND HYPERANDROGENISM 158330 for gene: WNT4 Publications for gene WNT4 were changed from 18179883 to 15317892 |
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| DDG2P v0.1 | WNT4 |
Rebecca Foulger gene: WNT4 was added gene: WNT4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: WNT4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: WNT4 were set to 18179883 Phenotypes for gene: WNT4 were set to SERKAL SYNDROME 611812 Mode of pathogenicity for gene: WNT4 was set to Other - please provide details in the comments |
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