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  3. MYBPC3
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Cardiomyopathy_Paediatric

Gene: MYBPC3

Green List (high evidence)
MYBPC3 (myosin binding protein C, cardiac)
EnsemblGeneIds (GRCh38): ENSG00000134571
EnsemblGeneIds (GRCh37): ENSG00000134571
OMIM: 600958, Gene2Phenotype
MYBPC3 is in 12 panels

2 reviews

Ivan Macciocca (Victorian Clinical Genetics Services)

Green List (high evidence)

DEFINITIVE evidence by ClinGen HCM working group PMID: 30681346
Created: 21 Jun 2020, 6:46 a.m. | Last Modified: 21 Jun 2020, 6:46 a.m.
Panel Version: 0.67

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
HCM

Publications

Created: 21 Jun 2020, 6:46 a.m.
Last Modified: 21 Jun 2020, 6:46 a.m.
Panel version: Imported from Hypertrophic cardiomyopathy_HCM panel version 0.67

Kristin Rigbye (Victorian Clinical Genetics Services)

Green List (high evidence)

Well known gene-disease association
Created: 11 Feb 2020, 1:24 a.m. | Last Modified: 11 Feb 2020, 1:24 a.m.
Panel Version: 0.11

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

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

Created: 11 Feb 2020, 1:24 a.m.
Last Modified: 11 Feb 2020, 1:24 a.m.
Panel version: Imported from Hypertrophic cardiomyopathy_HCM panel version 0.11

Details

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

History Filter Activity

28 Jul 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MYBPC3 was added gene: MYBPC3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green Mode of inheritance for gene: MYBPC3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MYBPC3 were set to Cardiomyopathy, familial hypertrophic, 4,; Left ventricular noncompaction 10,; Cardiomyopathy, dilated, 1MM; Hypertrophic cardiomyopathy