Congenital Heart Defect
Gene: MYBPC3
Mono-allelic variants in this gene are typically associated with cardiomyopathy.
However, there are rare reports of bi-allelic variants in the context of severe, perinatal CM and also septal defects.
There is also a postulated link between mono-allelic variants and bicuspid Ao valve. However, given BAV is relatively common in the population, this is much harder to substantiate.Created: 22 Nov 2023, 2:50 a.m. | Last Modified: 22 Nov 2023, 2:50 a.m.
Panel Version: 0.324
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cardiomyopathy, hypertrophic, 4, MIM# 115197
Publications
Gene: mybpc3 has been classified as Amber List (Moderate Evidence).
Publications for gene: MYBPC3 were set to 25335496; 16679492
Phenotypes for gene: MYBPC3 were changed from to Cardiomyopathy, hypertrophic, 4, MIM# 115197
Publications for gene: MYBPC3 were set to
Mode of inheritance for gene: MYBPC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: mybpc3 has been classified as Amber List (Moderate Evidence).
gene: MYBPC3 was added gene: MYBPC3 was added to Congenital Heart Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MYBPC3 was set to Unknown