Dilated Cardiomyopathy and conduction defects

Gene: MYBPC3

Green List (high evidence)

MYBPC3 (myosin binding protein C, cardiac)
EnsemblGeneIds (GRCh38): ENSG00000134571
EnsemblGeneIds (GRCh37): ENSG00000134571
OMIM: 600958, Gene2Phenotype
MYBPC3 is in 10 panels

5 reviews

Rebecca Whittington (South West GLH)

Green List (high evidence)

Cardiomyopathy, dilated, 1MM OMIM#615396; Cardiomyopathy, hypertrophic, 4 OMIM#115197; Left ventricular noncompaction 10 OMIM#615396
Created: 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

James Eden (Manchester)

Green List (high evidence)

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

Ellen McDonagh (Genomics England Curator)

I don't know

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

Caroline Wright (Genomics England Curator)

Comment when marking as ready: On Manchester diagnostic panel; lots of variants in OMIM
Created: 14 Feb 2016, 4:18 p.m.

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Expert list
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Cardiomyopathy, hypertrophic, 4 (115197)
  • Left ventricular noncompaction 10 (615396)
  • Cardiomyopathy, dilated, 1MM
  • Cardiomyopathy, dilated, 1MM (615396)
OMIM
600958
Clinvar variants
Variants in MYBPC3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 4

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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

20 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to MYBPC3.

14 Feb 2019, Gel status: 3

Added New Source, Set Phenotypes, Set publications, Status Update

Ellen McDonagh (Genomics England Curator)

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)

14 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MYBPC3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

14 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

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

14 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MYBPC3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

14 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

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

14 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MYBPC3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

14 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

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

14 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MYBPC3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

14 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

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

14 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

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