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  3. MYBPC3
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Paediatric or syndromic cardiomyopathy

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
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

Created: 25 Mar 2019, 4:24 p.m.

Panel version: Imported from Previous cardiomyopathies - including childhood onset panel version 1.9

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,