Activity

Filter

Cancel
Date Panel Item Activity
4 actions
DDG2P v3.12 CHST3 Achchuthan Shanmugasundram reviewed gene: CHST3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19320654, 20830804, 112567, 15098240, 18513679, 18698629; Phenotypes: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, OMIM:143095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.11 CHST3 Achchuthan Shanmugasundram Publications for gene: CHST3 were updated from 19320654; 15098240; 18698629; 18513679; 112567; 20830804 to 19320654; 20830804; 112567; 15098240; 18513679; 18698629
DDG2P v0.2 CHST3 Rebecca Foulger reviewed gene: CHST3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 CHST3 Rebecca Foulger gene: CHST3 was added
gene: CHST3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHST3 were set to 19320654; 15098240; 18698629; 18513679; 112567; 20830804
Phenotypes for gene: CHST3 were set to SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS 143095