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Congenital myopathy v3.31 COL6A2 Arina Puzriakova Phenotypes for gene: COL6A2 were changed from Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090 to Bethlem myopathy, OMIM:158810; Ullrich congenital muscular dystrophy, OMIM:254090
Congenital myopathy v1.120 COL6A2 Rachael Mein edited their review of gene: COL6A2: Changed publications: 15689448; Changed phenotypes: Bethlem myopathy, 158810, Ullrich congenital muscular dystrophy, 254090
Congenital myopathy v1.76 COL6A2 Louise Daugherty reviewed gene: COL6A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.75 COL6A2 Rachael Mein reviewed gene: COL6A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24334604; Phenotypes: EDS/myopathy overlap syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.74 COL6A2 Louise Daugherty Source NHS GMS was added to COL6A2.
Congenital myopathy v1.73 COL6A2 Louise Daugherty Source London South GLH was added to COL6A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy COL6A2 Anna Sarkozy reviewed COL6A2
Congenital myopathy COL6A2 Helen Brittain marked COL6A2 as ready
Congenital myopathy COL6A2 Helen Brittain marked COL6A2 as ready
Congenital myopathy COL6A2 Helen Brittain reviewed COL6A2
Congenital myopathy COL6A2 Helen Brittain reviewed COL6A2