03 Feb 2023
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
13 Jan 2020
Congenital myopathy v2.0
MYPN
Louise Daugherty Tag watchlist was removed from gene: MYPN.
13 Jan 2020
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.
17 Oct 2019
Congenital myopathy v1.182
MYPN
Louise Daugherty edited their review of gene: MYPN: Changed rating: GREEN
17 Oct 2019
Congenital myopathy v1.174
MYPN
Louise Daugherty Classified gene: MYPN as Green List (high evidence)
17 Oct 2019
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.
17 Oct 2019
Congenital myopathy v1.174
MYPN
Louise Daugherty Gene: mypn has been classified as Green List (High Evidence).
03 May 2019
Congenital myopathy v1.143
MYPN
Louise Daugherty Phenotypes for gene: MYPN were changed from Congenital cap myopathy to Congenital cap myopathy; Nemaline myopathy, 617336
03 May 2019
Congenital myopathy v1.142
MYPN
Louise Daugherty Publications for gene: MYPN were set to 28220527
03 May 2019
Congenital myopathy v1.120
MYPN
Rachael Mein edited their review of gene: MYPN: Changed publications: 28017374; Changed phenotypes: Nemaline myopathy 617336
30 Apr 2019
Congenital myopathy v1.76
MYPN
Louise Daugherty reviewed gene: MYPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Apr 2019
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
30 Apr 2019
Congenital myopathy v1.74
MYPN
Louise Daugherty Source NHS GMS was added to MYPN.
30 Apr 2019
Congenital myopathy v1.73
MYPN
Louise Daugherty Source London South GLH was added to MYPN.
07 Mar 2017
Congenital myopathy
MYPN
Helen Brittain marked MYPN as ready
07 Mar 2017
Congenital myopathy
MYPN
Helen Brittain commented on MYPN
07 Mar 2017
Congenital myopathy
MYPN
Helen Brittain classified MYPN as amber
06 Mar 2017
Congenital myopathy
MYPN
Anna Sarkozy reviewed MYPN