Hypertrophic cardiomyopathy
Gene: MYBPC3
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 11:26 a.m. | Last Modified: 2 Dec 2019, 11:26 a.m.
Panel Version: 1.81
Comment on mode of inheritance: MOI changed due to evidence in OMIM that there are patients who are biallelic for variants in this gene.Created: 20 Nov 2019, 2:40 p.m. | Last Modified: 20 Nov 2019, 2:40 p.m.
Panel Version: 1.78
Cardiomyopathy, hypertrophic, 4 (115197)Created: 25 Mar 2019, 4:30 p.m.
Sarcomeric HCM genes - well established geneCreated: 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 on Royal Brompton diagnostic panel. Definitive HCM-causing sarcomeric gene.Created: 19 Mar 2019, 5:15 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
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. Technical comment provided: include introns.Created: 20 Feb 2019, 2:17 p.m.
Gene currently tested on Manchester cardiac gene panel. 1053 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: 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
Comment when marking as ready: On Manchester HCM diagnostic panelCreated: 11 Feb 2016, 3:06 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene: MYBPC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYBPC3 were set to 27532257; 28369730
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; 28369730 Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
MYBPC3 was added to Hypertrophic Cardiomyopathypanel. Sources: Eligibility statement prior genetic testing
MYBPC3 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list
Model of inheritance for gene MYBPC3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MYBPC3 was added to Hypertrophic Cardiomyopathypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene MYBPC3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MYBPC3 was added to Hypertrophic Cardiomyopathypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene MYBPC3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MYBPC3 was added to Hypertrophic Cardiomyopathypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
MYBPC3 was added to Hypertrophic Cardiomyopathypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services