MYBPC3

myosin binding protein C3
OMIM: 600958, ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Amber MYBPC3 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, hypertrophic, 4, MIM# 115197
Red MYBPC3 in Dilated Cardiomyopathy Level 2: Cardiovascular disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1MM, MIM#615396
Green MYBPC3 in Hypertrophic cardiomyopathy Level 2: Cardiovascular disorders Version 2.0	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1MM, 615396 Cardiomyopathy, hypertrophic, 4, 115197 Left ventricular noncompaction 10, 615396
Green MYBPC3 in Incidentalome Version 1.0	4 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1MM, MIM#615396 Cardiomyopathy, hypertrophic, 4, MIM# 115197 Tags cardiac
Red MYBPC3 in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Expert Review Amber Expert list Phenotypes Cardiomyopathy with myopathy
Green MYBPC3 in Additional findings_Adult Level 2: Screening Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Phenotypes Cardiomyopathy, dilated, 1MM, MIM# 615396 Cardiomyopathy, hypertrophic, 4, MIM# 115197 Left ventricular noncompaction 10, MIM# 615396
Green MYBPC3 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 1.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH South West GLH NHS GMS Phenotypes Cardiomyopathy, familial hypertrophic, 4, Left ventricular noncompaction 10, Cardiomyopathy, dilated, 1MM Hypertrophic cardiomyopathy
Red MYBPC3 in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene BabySeq Category B gene Phenotypes Cardiomyopathy, familial hypertrophic Cardiomyopathy, dilated
Green MYBPC3 in Incidentalome_PREGEN_DRAFT Version 1.0	0 reviews	Unknown	Sources NSW Health Pathology Expert Review Green
Green MYBPC3 in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Literature Phenotypes Neonatal hypertrophic cardiomyopathy Cardiomyopathy, hypertrophic, 4 - MIM#115197
Red MYBPC3 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene BabySeq Category B gene Expert Review Red Phenotypes Cardiomyopathy, familial hypertrophic Cardiomyopathy, dilated
Green MYBPC3 in Transplant Co-Morbidity Level 2: Screening Version 1.0	0 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1MM, MIM# 615396 Left ventricular noncompaction 10, MIM# 615396 Cardiomyopathy, hypertrophic, 4, MIM# 115197