Congenital myopathy
Gene: MYBPC3
Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.Created: 30 Apr 2019, 10:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
myopathy and cardiomyopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Reviewer contacted to see if they have further cases, amber and watchlist on current evidence (single case with AR mutations and skeletal phenotype although it is a recognized cardiac muscle gene)Created: 7 Mar 2017, 3:07 p.m.
Comment on publications: single case re skeletal muscleCreated: 7 Mar 2017, 3:05 p.m.
Comment on list classification: 19858127 has one case with skeletal muscle (in addition to cardiac muscle phenotype)Created: 7 Mar 2017, 3:05 p.m.
it is going to be added in the new diagnostic panelCreated: 6 Mar 2017, 12:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
myopathy and cardiomyopathy
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
Phenotypes for gene: MYBPC3 were changed from myopathy and cardiomyopathy to myopathy and cardiomyopathy; Cardiomyopathy, hypertrophic, 4, 115197
Source NHS GMS was added to MYBPC3.
Source London South GLH was added to MYBPC3.
This gene has been classified as Amber List (Moderate Evidence).
Publications for MYBPC3 were set to 19858127
This gene has been classified as Amber List (Moderate Evidence).
MYBPC3 was created by anna.sarkozy
MYBPC3 was added to Congenital myopathypanel. Sources: Expert Review