Activity

Filter

Cancel
Date Panel Item Activity
4 actions
DDG2P v3.12 AGPS Achchuthan Shanmugasundram reviewed gene: AGPS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11152660, 7807941; Phenotypes: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3, OMIM:600121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.11 AGPS Achchuthan Shanmugasundram Mode of pathogenicity for gene AGPS was changed from Other - please provide details in the comments to Other
Publications for gene: AGPS were updated from 7807941; 11152660 to 11152660; 7807941
DDG2P v0.2 AGPS Rebecca Foulger reviewed gene: AGPS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 AGPS Rebecca Foulger gene: AGPS was added
gene: AGPS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGPS were set to 7807941; 11152660
Phenotypes for gene: AGPS were set to RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3 600121
Mode of pathogenicity for gene: AGPS was set to Other - please provide details in the comments