Activity

Filter

Cancel
Date Panel Item Activity
4 actions
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)
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