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Congenital myopathy v4.33 SELENON Achchuthan Shanmugasundram edited their review of gene: SELENON: Changed phenotypes to: Muscular dystrophy, rigid spine, 1, OMIM:602771
Congenital myopathy v3.125 SELENON Achchuthan Shanmugasundram changed review comment from: Comment on phenotypes: OMIM associates 'Myopathy, congenital, with fiber-type disproportion, OMIM:255310' with TPM3. Hence, it has been removed here.; to: Comment on phenotypes: OMIM associates 'Myopathy, congenital, with fiber-type disproportion, OMIM:255310' with TPM3 and not with SELENON. Hence, it has been removed here.
Congenital myopathy v3.125 SELENON Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM associates 'Myopathy, congenital, with fiber-type disproportion, OMIM:255310' with TPM3. Hence, it has been removed here.
Congenital myopathy v3.125 SELENON Achchuthan Shanmugasundram Phenotypes for gene: SELENON were changed from Muscular dystrophy, rigid spine, 1, OMIM:602771; Myopathy, congenital, with fiber-type disproportion, OMIM:255310 to Muscular dystrophy, rigid spine, 1, OMIM:602771
Congenital myopathy v3.91 SELENON Arina Puzriakova Phenotypes for gene: SELENON were changed from Muscular dystrophy, rigid spine, 1 602771; Myopathy, congenital, with fiber-type disproportion 255310 to Muscular dystrophy, rigid spine, 1, OMIM:602771; Myopathy, congenital, with fiber-type disproportion, OMIM:255310
Congenital myopathy v3.90 SELENON Arina Puzriakova Publications for gene: SELENON were set to 26780752; 16365872
Congenital myopathy v1.120 SELENON Rachael Mein edited their review of gene: SELENON: Changed publications: 26780752, 16365872; Changed phenotypes: Muscular dystrophy, rigid spine, 1 602771, Myopathy, congenital, with fiber-type disproportion 255310
Congenital myopathy v1.76 SELENON Louise Daugherty edited their review of gene: SELENON: Added comment: Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.; Changed rating: AMBER
Congenital myopathy v1.75 SELENON Rachael Mein reviewed gene: SELENON: Rating: GREEN; Mode of pathogenicity: ; Publications: 28058752, 25227914; Phenotypes: Myopathy, tubular aggregate, 2 615883; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.74 SELENON Louise Daugherty Source NHS GMS was added to SELENON.
Congenital myopathy v1.73 SELENON Louise Daugherty Source London South GLH was added to SELENON.