Dilated Cardiomyopathy (DCM)
Gene: MYBPC3EnsemblGeneIds (GRCh38): ENSG00000134571
EnsemblGeneIds (GRCh37): ENSG00000134571
OMIM: 600958, Gene2Phenotype
MYBPC3 is in 9 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
PMID: 28420666 - should 'both' for mode of inheritance be considered? In this publication, patients with 2 mutations in MYBPC3 in the literature had severe disease with death or heart transplant during the first year of life.
Created: 14 Aug 2017, 12:54 p.m.
Publications
Caroline Wright (Genomics England Curator)
Comment when marking as ready: On Manchester diagnostic panel; lots of variants in OMIMCreated: 11 Feb 2016, 2:13 p.m.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Literature
- Expert Review Green
- Expert list
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Phenotypes
-
- Cardiomyopathy, dilated, 1MM
- Dilated cardiomyopathy
- Left ventricular non-compaction
- OMIM
- 600958
- Clinvar variants
- Variants in MYBPC3
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for MYBPC3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)MYBPC3 was added to Dilated Cardiomyopathy (DCM)panel. Source: Literature Model of inheritance for gene MYBPC3 was set to Unknown
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MYBPC3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)MYBPC3 was added to Dilated Cardiomyopathy (DCM)panel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MYBPC3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)MYBPC3 was added to Dilated Cardiomyopathy (DCM)panel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MYBPC3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)MYBPC3 was added to Dilated Cardiomyopathy (DCM)panel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MYBPC3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)MYBPC3 was added to Dilated Cardiomyopathy (DCM)panel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
Added New Source
Ellen McDonagh (Genomics England Curator)MYBPC3 was added to Dilated Cardiomyopathy (DCM)panel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list