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Congenital myopathy v4.22 NEB Achchuthan Shanmugasundram Tag watchlist_moi tag was added to gene: NEB.
Congenital myopathy v4.22 NEB Achchuthan Shanmugasundram commented on gene: NEB
Congenital myopathy v4.2 NEB Anna Sarkozy edited their review of gene: NEB: Added comment: comment re inheritance: a large in frame deletion in the NEB gene have now been described in a three-generation family and was shown to cause the production of a smaller mutant nebulin protein. Thus, it was suggested that this novel mutant nebulin protein has a dominant-negative effect.; Changed publications to: 12207937, 30679003; Changed phenotypes to: nemaline myopathy, Nemaline Myopathy, Recessive, Nemaline myopathy 2, autosomal recessive, 256030, Dominantly inherited distal nemaline/cap myopathy; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v3.78 NEB Arina Puzriakova Phenotypes for gene: NEB were changed from nemaline myopathy; Nemaline Myopathy, Recessive; Nemaline myopathy 2, autosomal recessive, 256030 to Nemaline myopathy 2, autosomal recessive, OMIM:256030
Congenital myopathy v1.120 NEB Rachael Mein edited their review of gene: NEB: Changed publications: 12207937; Changed phenotypes: nemaline myopathy, Nemaline Myopathy, Recessive, Nemaline myopathy 2, autosomal recessive, 256030
Congenital myopathy v1.76 NEB Louise Daugherty reviewed gene: NEB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.75 NEB Rachael Mein reviewed gene: NEB: Rating: GREEN; Mode of pathogenicity: ; Publications: 17041932; Phenotypes: Trismus-pseudocamptodactyly syndrome, 158300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.74 NEB Louise Daugherty Source NHS GMS was added to NEB.
Congenital myopathy v1.73 NEB Louise Daugherty Source London South GLH was added to NEB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy NEB Anna Sarkozy reviewed NEB
Congenital myopathy NEB Helen Brittain marked NEB as ready
Congenital myopathy NEB Helen Brittain reviewed NEB