Incidentalome

Gene: MYBPC3

Green List (high evidence)

Association with HCM is DEFINITIVE.

No segregation or experimental data to support association with DCM. VOUS only in large cohorts.

Created: 18 Mar 2021, 10:04 a.m. | Last Modified: 12 Aug 2022, 1:34 a.m.

Panel Version: 0.149

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cardiomyopathy, dilated, 1MM, MIM#615396; Cardiomyopathy, hypertrophic, 4, MIM# 115197

I don't know

Reviewed as Limited evidence by ClinGen working group (April 24, 2020) for dilated cardiomyopathy.

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_652d0370-9574-450c-b7c4-eec86ade9046-2020-09-04T160000.000Z

Created: 18 Mar 2021, 6:56 a.m. | Last Modified: 18 Mar 2021, 6:56 a.m.

Panel Version: 0.91

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiomyopathy, dilated, 1MM, MIM#615396

Variants in this GENE are reported as part of current diagnostic practice

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

• PMID: 30681346

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

• 20378854

Variants in this GENE are reported as part of current diagnostic practice