Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Congenital myopathy v3.38 EPG5 Arina Puzriakova Phenotypes for gene: EPG5 were changed from vacuolar myopathy? to Vici syndrome, OMIM:242840
Congenital myopathy v1.120 EPG5 Rachael Mein edited their review of gene: EPG5: Changed publications: 23222957; Changed phenotypes: vacuolar myopathy?
Congenital myopathy v1.76 EPG5 Louise Daugherty reviewed gene: EPG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.75 EPG5 Rachael Mein reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: ; Publications: 16917026; Phenotypes: Fetal akinesia deformation sequence 208150, Myasthenic syndrome, congenital, 10 254300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.74 EPG5 Louise Daugherty Source NHS GMS was added to EPG5.
Congenital myopathy v1.73 EPG5 Louise Daugherty Source London South GLH was added to EPG5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy EPG5 Helen Brittain marked EPG5 as ready
Congenital myopathy EPG5 Helen Brittain classified EPG5 as green
Congenital myopathy EPG5 Helen Brittain commented on EPG5
Congenital myopathy EPG5 Anna Sarkozy reviewed EPG5