03 Feb 2023
Congenital myopathy v3.67
MYBPC3
Arina Puzriakova Phenotypes for gene: MYBPC3 were changed from myopathy and cardiomyopathy; Cardiomyopathy, hypertrophic, 4, 115197 to Cardiomyopathy, dilated, 1MM, OMIM:615396; Cardiomyopathy, hypertrophic, 4, OMIM:115197
17 Oct 2019
Congenital myopathy v1.178
MYBPC3
Louise Daugherty Phenotypes for gene: MYBPC3 were changed from myopathy and cardiomyopathy to myopathy and cardiomyopathy; Cardiomyopathy, hypertrophic, 4, 115197
03 May 2019
Congenital myopathy v1.120
MYBPC3
Rachael Mein edited their review of gene: MYBPC3: Changed publications: 19858127; Changed phenotypes: myopathy and cardiomyopathy
30 Apr 2019
Congenital myopathy v1.76
MYBPC3
Louise Daugherty reviewed gene: MYBPC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Apr 2019
Congenital myopathy v1.75
MYBPC3
Rachael Mein reviewed gene: MYBPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 8640223; Phenotypes: X-linked myotubular myopathy, Myotubular myopathy, X-linked, 310400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
30 Apr 2019
Congenital myopathy v1.74
MYBPC3
Louise Daugherty Source NHS GMS was added to MYBPC3.
30 Apr 2019
Congenital myopathy v1.73
MYBPC3
Louise Daugherty Source London South GLH was added to MYBPC3.
07 Mar 2017
Congenital myopathy
MYBPC3
Helen Brittain marked MYBPC3 as ready
07 Mar 2017
Congenital myopathy
MYBPC3
Helen Brittain classified MYBPC3 as amber
07 Mar 2017
Congenital myopathy
MYBPC3
Helen Brittain commented on MYBPC3
06 Mar 2017
Congenital myopathy
MYBPC3
Anna Sarkozy reviewed MYBPC3