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Congenital myopathy v3.77 MYPN Arina Puzriakova Phenotypes for gene: MYPN were changed from Congenital cap myopathy; Nemaline myopathy, 617336 to Nemaline myopathy 11, autosomal recessive, OMIM:617336
Congenital myopathy v2.0 MYPN Louise Daugherty Tag watchlist was removed from gene: MYPN.
Congenital myopathy v2.0 MYPN Louise Daugherty commented on gene: MYPN: As a result of watchlist tag audit the watchlist tag was removed from MYPN- this is now a green gene.
Congenital myopathy v1.182 MYPN Louise Daugherty edited their review of gene: MYPN: Changed rating: GREEN
Congenital myopathy v1.174 MYPN Louise Daugherty Classified gene: MYPN as Green List (high evidence)
Congenital myopathy v1.174 MYPN Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene as Green.
Congenital myopathy v1.174 MYPN Louise Daugherty Gene: mypn has been classified as Green List (High Evidence).
Congenital myopathy v1.143 MYPN Louise Daugherty Phenotypes for gene: MYPN were changed from Congenital cap myopathy to Congenital cap myopathy; Nemaline myopathy, 617336
Congenital myopathy v1.142 MYPN Louise Daugherty Publications for gene: MYPN were set to 28220527
Congenital myopathy v1.120 MYPN Rachael Mein edited their review of gene: MYPN: Changed publications: 28017374; Changed phenotypes: Nemaline myopathy 617336
Congenital myopathy v1.76 MYPN Louise Daugherty reviewed gene: MYPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.75 MYPN Rachael Mein reviewed gene: MYPN: Rating: GREEN; Mode of pathogenicity: ; Publications: 15052268, 16896922; Phenotypes: Arthrogryposis renal dysfunction, and cholestasis 1, 208085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.74 MYPN Louise Daugherty Source NHS GMS was added to MYPN.
Congenital myopathy v1.73 MYPN Louise Daugherty Source London South GLH was added to MYPN.
Congenital myopathy MYPN Helen Brittain marked MYPN as ready
Congenital myopathy MYPN Helen Brittain commented on MYPN
Congenital myopathy MYPN Helen Brittain classified MYPN as amber
Congenital myopathy MYPN Anna Sarkozy reviewed MYPN