Activity
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6 actions
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| DDG2P v6.274 | NPM1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: NPM1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | NPM1 | Achchuthan Shanmugasundram edited their review of gene: NPM1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NPM1-related dyskeratosis congenita are strong, monoallelic_autosomal and undetermined (PMID:31570891). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02813.; Changed phenotypes to: Dyskeratosis Congenita, MONDO:0015780, NPM1-related dyskeratosis congenita | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NPM1 | Achchuthan Shanmugasundram reviewed gene: NPM1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31570891; Phenotypes: Dyskeratosis Congenita; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NPM1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NPM1. Mode of pathogenicity for gene NPM1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.152 | NPM1 | Rebecca Foulger reviewed gene: NPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.151 | NPM1 |
Rebecca Foulger gene: NPM1 was added gene: NPM1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NPM1 were set to 31570891 Phenotypes for gene: NPM1 were set to Dyskeratosis Congenita Mode of pathogenicity for gene: NPM1 was set to Other - please provide details in the comments |
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