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Congenital Heart Defect

Gene: MYBPC3

Amber List (moderate evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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

Yi-Wei Chao (Other)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hypertrophic cardiomyopathy; bicuspid aortic valve; severe infantile cardiomyopathy; septal defect

Publications

Details

History Filter Activity

22 Nov 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mybpc3 has been classified as Amber List (Moderate Evidence).

22 Nov 2023, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MYBPC3 were set to 25335496; 16679492

22 Nov 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MYBPC3 were changed from to Cardiomyopathy, hypertrophic, 4, MIM# 115197

22 Nov 2023, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MYBPC3 were set to

22 Nov 2023, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MYBPC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mybpc3 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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