Dilated Cardiomyopathy and conduction defects
Gene: MYBPC3
Cardiomyopathy, dilated, 1MM OMIM#615396; Cardiomyopathy, hypertrophic, 4 OMIM#115197; Left ventricular noncompaction 10 OMIM#615396Created: 25 Mar 2019, 4:30 p.m.
Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quoted as 2% of DCM patients) and Pugh (2014) Genet Med 16, 601 (no clearly LP or pathogenic variants).Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Gene currently tested on Manchester cardiac gene panel. 1053 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: currently no stated association with DCM, definitive association with hypertrophic cardiomyopathy 4 (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiomyopathy, dilated, 1MM (615396); Cardiomyopathy, hypertrophic, 4 (115197); Left ventricular noncompaction 10 (615396)
Publications
Variants in this GENE are reported as part of current diagnostic practice
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
PMID: 28420666 - should 'both' for mode of inheritance be considered? In this publication, patients with 2 mutations in MYBPC3 in the literature had severe disease with death or heart transplant during the first year of life.
Created: 14 Aug 2017, 12:54 p.m.
Publications
Comment when marking as ready: On Manchester diagnostic panel; lots of variants in OMIMCreated: 14 Feb 2016, 4:18 p.m.
Source South West GLH was added to MYBPC3. Mode of inheritance for gene MYBPC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source London South GLH was added to MYBPC3.
Source North West GLH was added to MYBPC3. Added phenotypes Cardiomyopathy, hypertrophic, 4 (115197); Left ventricular noncompaction 10 (615396); Cardiomyopathy, dilated, 1MM (615396) for gene: MYBPC3 Publications for gene MYBPC3 were changed from to 27532257; 20186049 Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene MYBPC3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MYBPC3 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
Model of inheritance for gene MYBPC3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MYBPC3 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
Model of inheritance for gene MYBPC3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MYBPC3 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
Model of inheritance for gene MYBPC3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MYBPC3 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
MYBPC3 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list