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Cardiomyopathies - including childhood onset

Gene: MYBPC3

Green List (high evidence)

MYBPC3 (myosin binding protein C, cardiac)
EnsemblGeneIds (GRCh38): ENSG00000134571
EnsemblGeneIds (GRCh37): ENSG00000134571
OMIM: 600958, Gene2Phenotype
MYBPC3 is in 9 panels

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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

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.
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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • South West GLH
  • London South GLH
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 4,
  • Cardiomyopathy, dilated, 1MM
  • Hypertrophic cardiomyopathy
  • Left ventricular noncompaction 10,
OMIM
600958
Clinvar variants
Variants in MYBPC3
Penetrance
None
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: MYBPC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to MYBPC3.

4 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

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,