Activity
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6 actions
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| DDG2P v6.409 | VANGL1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: VANGL1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | VANGL1 | Achchuthan Shanmugasundram edited their review of gene: VANGL1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for VANGL1-related neural tube defects are limited, monoallelic_autosomal and undetermined (PMID:17409324). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00383.; Changed phenotypes to: VANGL1-related neural tube defects, MONDO:0020705, OMIM:182940.0, NEURAL TUBE DEFECTS, OMIM:182940 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | VANGL1 | Achchuthan Shanmugasundram reviewed gene: VANGL1: Rating: RED; Mode of pathogenicity: Other; Publications: 17409324; Phenotypes: NEURAL TUBE DEFECTS, OMIM:182940; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | VANGL1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene VANGL1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | VANGL1 | Rebecca Foulger reviewed gene: VANGL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | VANGL1 |
Rebecca Foulger gene: VANGL1 was added gene: VANGL1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: VANGL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: VANGL1 were set to 17409324 Phenotypes for gene: VANGL1 were set to NEURAL TUBE DEFECTS 182940 Mode of pathogenicity for gene: VANGL1 was set to Other - please provide details in the comments |
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