Activity
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6 actions
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| DDG2P v6.256 | MSI1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: MSI1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | MSI1 | Achchuthan Shanmugasundram edited their review of gene: MSI1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MSI1-related microcephaly are limited, biallelic_autosomal and undetermined (PMID:28572454). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02422.; Changed phenotypes to: MSI1-related microcephaly, MSI1-associated Microcephaly, MONDO:0001149 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MSI1 | Achchuthan Shanmugasundram reviewed gene: MSI1: Rating: RED; Mode of pathogenicity: Other; Publications: 28572454; Phenotypes: MSI1-associated Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MSI1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene MSI1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MSI1 | Rebecca Foulger reviewed gene: MSI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MSI1 |
Rebecca Foulger gene: MSI1 was added gene: MSI1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MSI1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MSI1 were set to 28572454 Phenotypes for gene: MSI1 were set to MSI1-associated Microcephaly Mode of pathogenicity for gene: MSI1 was set to Other - please provide details in the comments |
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