Activity

Filter

Cancel
Date Panel Item Activity
4 actions
DDG2P v3.12 TUFM Achchuthan Shanmugasundram reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17160893; Phenotypes: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, OMIM:610678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.11 TUFM Achchuthan Shanmugasundram Source Expert Review Green was added to TUFM.
Mode of pathogenicity for gene TUFM was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v0.2 TUFM Rebecca Foulger reviewed gene: TUFM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 TUFM Rebecca Foulger gene: TUFM was added
gene: TUFM was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUFM were set to 17160893
Phenotypes for gene: TUFM were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 610678
Mode of pathogenicity for gene: TUFM was set to Other - please provide details in the comments