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Congenital myopathy v4.18 DNM2 Achchuthan Shanmugasundram commented on gene: DNM2: The "watchlist_moi" tag is added to this gene to review the MOI in light of any new evidence as there is one family reported with biallelic inheritance.
Congenital myopathy v4.18 DNM2 Achchuthan Shanmugasundram Tag watchlist_moi tag was added to gene: DNM2.
Congenital myopathy v4.18 DNM2 Achchuthan Shanmugasundram Phenotypes for gene: DNM2 were changed from Centronuclear myopathy 1, OMIM:160150; Lethal congenital contracture syndrome 5, OMIM:615368 to Centronuclear myopathy 1, OMIM:160150; Lethal congenital contracture syndrome 5, OMIM:615368
Congenital myopathy v4.17 DNM2 Achchuthan Shanmugasundram Phenotypes for gene: DNM2 were changed from Centronuclear myopathy 1, OMIM:160150 to Centronuclear myopathy 1, OMIM:160150; Lethal congenital contracture syndrome 5, OMIM:615368
Congenital myopathy v4.16 DNM2 Achchuthan Shanmugasundram Publications for gene: DNM2 were set to 22396310
Congenital myopathy v4.15 DNM2 Achchuthan Shanmugasundram reviewed gene: DNM2: Rating: ; Mode of pathogenicity: None; Publications: 23092955; Phenotypes: Lethal congenital contracture syndrome 5, OMIM:615368; Mode of inheritance: None
Congenital myopathy v4.2 DNM2 Anna Sarkozy edited their review of gene: DNM2: Added comment: biallelic DNM2 variants were also described in three consanguineous patients with lethal congenital syndrome caractherised by akinesia, joint contractures, hypotonia, skeletal abnormalities, and brain and retinal hemorrhages. muscle biopsy and EMG showed myopathic features. in particular, muscle biopsy of one patient showed small rounded fibers with some centralized nuclei, suggestive of a congenital myopathy whereas biopsy of a 2nd patient showed atrophic fibers without obvious centralization of nuclei.; Changed publications to: 22396310, 23092955; Changed phenotypes to: Myopathy, centronuclear, 160150, Charcot-Marie-Tooth disease, axonal, type 2M, 606482, lethal congenital syndrome; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v3.35 DNM2 Arina Puzriakova Phenotypes for gene: DNM2 were changed from Myopathy, centronuclear, 160150; Charcot-Marie-Tooth disease, axonal, type 2M, 606482 to Centronuclear myopathy 1, OMIM:160150
Congenital myopathy v1.120 DNM2 Rachael Mein edited their review of gene: DNM2: Changed publications: 22396310; Changed phenotypes: Myopathy, centronuclear, 160150, Charcot-Marie-Tooth disease, axonal, type 2M, 606482
Congenital myopathy v1.110 DNM2 Sarah Leigh Publications for gene: DNM2 were set to 22396310; 15689448
Congenital myopathy v1.109 DNM2 Sarah Leigh Publications for gene: DNM2 were set to 22396310
Congenital myopathy v1.76 DNM2 Louise Daugherty reviewed gene: DNM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.75 DNM2 Rachael Mein reviewed gene: DNM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15689448; Phenotypes: Bethlem myopathy, 158810, Ullrich congenital muscular dystrophy, 254090; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.74 DNM2 Louise Daugherty Source NHS GMS was added to DNM2.
Congenital myopathy v1.73 DNM2 Louise Daugherty Source London South GLH was added to DNM2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy DNM2 Anna Sarkozy reviewed DNM2
Congenital myopathy DNM2 Helen Brittain marked DNM2 as ready
Congenital myopathy DNM2 Helen Brittain reviewed DNM2