Dilated Cardiomyopathy (DCM)
Gene: MYBPC3PMID: 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
Comment when marking as ready: On Manchester diagnostic panel; lots of variants in OMIMCreated: 11 Feb 2016, 2:13 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for MYBPC3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MYBPC3 was added to Dilated Cardiomyopathy (DCM)panel. Source: Literature Model of inheritance for gene MYBPC3 was set to Unknown
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene MYBPC3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Model of inheritance for gene MYBPC3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Model of inheritance for gene MYBPC3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Model of inheritance for gene MYBPC3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
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