Activity

Filter

Cancel
Date Panel Item Activity
4 actions
DDG2P v3.12 SPRTN Achchuthan Shanmugasundram reviewed gene: SPRTN: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: PROGEROID SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.11 SPRTN Achchuthan Shanmugasundram Mode of pathogenicity for gene SPRTN was changed from Other - please provide details in the comments to Other
DDG2P v0.2 SPRTN Rebecca Foulger reviewed gene: SPRTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 SPRTN Rebecca Foulger gene: SPRTN was added
gene: SPRTN was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: SPRTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPRTN were set to PROGEROID SYNDROME
Mode of pathogenicity for gene: SPRTN was set to Other - please provide details in the comments