Activity

Filter

Cancel
Date Panel Item Activity
4 actions
DDG2P v3.12 ST3GAL5 Achchuthan Shanmugasundram reviewed gene: ST3GAL5: Rating: GREEN; Mode of pathogenicity: ; Publications: 30691927, 24026681, 27232954, 15502825, 30185102; Phenotypes: AMISH INFANTILE EPILEPSY SYNDROME, OMIM:609056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.11 ST3GAL5 Achchuthan Shanmugasundram Source Expert Review Green was added to ST3GAL5.
Publications for gene: ST3GAL5 were updated from to 30691927; 24026681; 27232954; 15502825; 30185102
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v0.2 ST3GAL5 Rebecca Foulger reviewed gene: ST3GAL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 ST3GAL5 Rebecca Foulger gene: ST3GAL5 was added
gene: ST3GAL5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST3GAL5 were set to AMISH INFANTILE EPILEPSY SYNDROME 319543