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Congenital myopathy v3.118 VMA21 Arina Puzriakova Phenotypes for gene: VMA21 were changed from vacuolar myopathy? to Myopathy, X-linked, with excessive autophagy, OMIM:310440
Congenital myopathy v1.120 VMA21 Rachael Mein edited their review of gene: VMA21: Changed publications: 23315026; Changed phenotypes: vacuolar myopathy?
Congenital myopathy v1.76 VMA21 Louise Daugherty reviewed gene: VMA21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.75 VMA21 Rachael Mein reviewed gene: VMA21: Rating: GREEN; Mode of pathogenicity: ; Publications: 26296490, 25430424; Phenotypes: nemaline myopathy, Nemaline Myopathy, Recessive, Nemaline myopathy 5, Amish type, 605355; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Congenital myopathy v1.74 VMA21 Louise Daugherty Source NHS GMS was added to VMA21.
Congenital myopathy v1.73 VMA21 Louise Daugherty Source London South GLH was added to VMA21.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy VMA21 Helen Brittain marked VMA21 as ready
Congenital myopathy VMA21 Helen Brittain classified VMA21 as green
Congenital myopathy VMA21 Helen Brittain commented on VMA21
Congenital myopathy VMA21 Anna Sarkozy reviewed VMA21