Activity

Filter

Cancel
Date Panel Item Activity
11 actions
Congenital myopathy v3.102 STIM1 Arina Puzriakova Phenotypes for gene: STIM1 were changed from Myopathy, tubular aggregate, 160565 to Myopathy, tubular aggregate, 1, OMIM:160565
Congenital myopathy v1.120 STIM1 Rachael Mein edited their review of gene: STIM1: Changed publications: 23332920; Changed phenotypes: Myopathy, tubular aggregate, 160565
Congenital myopathy v1.76 STIM1 Louise Daugherty reviewed gene: STIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.75 STIM1 Rachael Mein reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26780752, 16365872; Phenotypes: Muscular dystrophy, rigid spine, 1, 602771, Myopathy, congenital, with fiber-type disproportion, 255310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.74 STIM1 Louise Daugherty Source NHS GMS was added to STIM1.
Congenital myopathy v1.73 STIM1 Louise Daugherty Source London South GLH was added to STIM1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy STIM1 Sarah Leigh reviewed STIM1
Congenital myopathy STIM1 Anna Sarkozy reviewed STIM1
Congenital myopathy STIM1 Helen Brittain marked STIM1 as ready
Congenital myopathy STIM1 Helen Brittain classified STIM1 as green
Congenital myopathy STIM1 Helen Brittain reviewed STIM1