Muscular dystrophy and myopathy_Paediatric

Gene: MYBPC3

Red List (low evidence)

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

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

Red List (low evidence)

Single report of a dystrophy, patient was homozygous for a PTC.
Sources: Expert list
Created: 8 Jul 2020, 1:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cardiomyopathy with myopathy

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Well established cardiomyopathy gene, single family reported with skeletal muscle phenotype.
Sources: Expert list
Created: 3 Jun 2020, 8:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
myopathy and hypertrophic cardiomyopathy

Publications

Details

History Filter Activity

8 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mybpc3 has been classified as Red List (Low Evidence).

8 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mybpc3 has been classified as Red List (Low Evidence).

8 Jul 2020, Gel status: 0

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