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Distal myopathies v6.18 NEB Arina Puzriakova Tag dd_review was removed from gene: NEB.
Tag Q3_25_MOI was removed from gene: NEB.
Distal myopathies v6.18 NEB Achchuthan Shanmugasundram commented on gene: NEB: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Distal myopathies v6.17 NEB Arina Puzriakova Source NHS GMS was added to NEB.
Mode of inheritance for gene NEB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Distal myopathies v6.8 NEB Achchuthan Shanmugasundram Tag dd_review tag was added to gene: NEB.
Distal myopathies v6.8 NEB Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As there is sufficient evidence available for the association of monoallelic intragenic deletions in NEB gene with a milder distal myopathy phenotype, the MOI should be updated to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal' in the next GMS update.
Distal myopathies v6.8 NEB Achchuthan Shanmugasundram Mode of inheritance for gene: NEB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Distal myopathies v6.7 NEB Achchuthan Shanmugasundram Phenotypes for gene: NEB were changed from Nemaline myopathy 2, 256030 to Nemaline myopathy 2, OMIM:256030; distal myopathy, MONDO:0018949
Distal myopathies v6.6 NEB Achchuthan Shanmugasundram Publications for gene: NEB were set to 12207937; 30679003; 39474605
Distal myopathies v6.5 NEB Achchuthan Shanmugasundram Tag Q3_25_MOI tag was added to gene: NEB.
Distal myopathies v6.5 NEB Achchuthan Shanmugasundram reviewed gene: NEB: Rating: GREEN; Mode of pathogenicity: None; Publications: 40517164; Phenotypes: distal myopathy, MONDO:0018949; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Distal myopathies v6.2 NEB Arina Puzriakova Publications for gene: NEB were set to
Distal myopathies NEB Arianna Tucci marked NEB as ready
Distal myopathies NEB Arianna Tucci classified NEB as green
Distal myopathies NEB Arianna Tucci added NEB to panel
Distal myopathies NEB Arianna Tucci reviewed NEB