Dilated and arrhythmogenic cardiomyopathy
Gene: MYBPC3
Submitted on behalf of the GMS Cardiology specialist group. This gene did not achieve a consensus Green rating; however, the group agreed that the existing evidence (published and in-house data) was sufficient to support inclusion in this panel.Created: 9 Dec 2019, 1:19 p.m. | Last Modified: 9 Dec 2019, 1:19 p.m.
Panel Version: 0.61
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.Created: 3 Dec 2019, 2:28 p.m. | Last Modified: 3 Dec 2019, 2:28 p.m.
Panel Version: 0.52
Gene currently tested on Manchester DCM panel. Currently no stated association with DCM on ClinGen Knowledge Base. Cardiodb.org/ACGV: excess of MYBPC3 in cases vs controls = 0.53% (p=0.2002).Created: 27 Sep 2019, 12:17 p.m. | Last Modified: 27 Sep 2019, 12:17 p.m.
Panel Version: 0.46
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
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
Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has a Red review from one of these labs and therefore demoted to Amber for further discussion.Created: 24 Mar 2019, 10:20 a.m.
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 Expert Review Green was added to MYBPC3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: mybpc3 has been classified as Amber List (Moderate Evidence).
gene: MYBPC3 was added gene: MYBPC3 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN Mode of inheritance for gene: MYBPC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYBPC3 were set to 20186049; 27532257 Phenotypes for gene: MYBPC3 were set to Cardiomyopathy, dilated, 1MM; Cardiomyopathy, hypertrophic, 4 (115197); Left ventricular noncompaction 10 (615396); Cardiomyopathy, dilated, 1MM (615396)