Muscular dystrophy and myopathy_Paediatric
Gene: MYBPC3EnsemblGeneIds (GRCh38): ENSG00000134571
EnsemblGeneIds (GRCh37): ENSG00000134571
OMIM: 600958, Gene2Phenotype
MYBPC3 is in 12 panels
2 reviews
Elena Savva (Victorian Clinical Genetics Services)
Single report of a dystrophy, patient was homozygous for a PTC.
Sources: Expert listCreated: 8 Jul 2020, 1:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cardiomyopathy with myopathy
Publications
- PMID: 19858127
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established cardiomyopathy gene, single family reported with skeletal muscle phenotype.
Sources: Expert listCreated: 3 Jun 2020, 8:24 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
myopathy and hypertrophic cardiomyopathy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- Expert Review Amber
- Expert list
- Phenotypes
-
- Cardiomyopathy with myopathy
- OMIM
- 600958
- Clinvar variants
- Variants in MYBPC3
- Penetrance
- None
- Publications
-
- PMID: 19858127
- Panels with this gene
-
- Incidentalome
- Additional findings_Adult
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Cardiomyopathy_Paediatric
- Incidentalome_PREGEN_DRAFT
- Dilated Cardiomyopathy
- BabyScreen+ newborn screening
- Transplant Co-Morbidity Superpanel
- Muscular dystrophy and myopathy_Paediatric
- Hypertrophic cardiomyopathy_HCM
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mybpc3 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mybpc3 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)gene: MYBPC3 was added gene: MYBPC3 was added to Muscular dystrophy. Sources: Expert list Mode of inheritance for gene: MYBPC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYBPC3 were set to PMID: 19858127 Phenotypes for gene: MYBPC3 were set to Cardiomyopathy with myopathy Review for gene: MYBPC3 was set to RED