Activity

Filter

Cancel
Date Panel Item Activity
4 actions
DDG2P v3.12 SCYL1 Achchuthan Shanmugasundram reviewed gene: SCYL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26581903; Phenotypes: Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.11 SCYL1 Achchuthan Shanmugasundram Source Expert Review Green was added to SCYL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v0.2 SCYL1 Rebecca Foulger reviewed gene: SCYL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 SCYL1 Rebecca Foulger gene: SCYL1 was added
gene: SCYL1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCYL1 were set to 26581903
Phenotypes for gene: SCYL1 were set to Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia