Cardiomyopathies - including childhood onsetGene: MYBPC3
Comment on mode of inheritance: MOI changed as HCM can be both monoallelic and biallelic.
Created: 2 Dec 2019, 4:41 p.m. | Last Modified: 2 Dec 2019, 4:41 p.m.
Panel Version: 0.32
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, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Cardiomyopathy, dilated, 1MM OMIM#615396; Cardiomyopathy, hypertrophic, 4 OMIM#115197; Left ventricular noncompaction 10 OMIM#615396
Created: 25 Mar 2019, 4:30 p.m.
Core HCM/DCM gene. Documentation of paediatric cases with this gene is rare but recent data presented: https://academic.oup.com/eurheartj/article-abstract/39/suppl_1/ehy566.P6321/5081121?redirectedFrom=fulltext Clinical presentation and outcomes in paediatric-onset hypertrophic cardiomyopathy associated with MYBPC3 mutations: E Field. Large cohort of paediatric cases with MYBPC3 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
Mode of inheritance for gene: MYBPC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Source NHS GMS was added to MYBPC3.
gene: MYBPC3 was added gene: MYBPC3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH Mode of inheritance for gene: MYBPC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYBPC3 were set to Cardiomyopathy, familial hypertrophic, 4,; Cardiomyopathy, dilated, 1MM; Hypertrophic cardiomyopathy; Left ventricular noncompaction 10,