Cardiomyopathy_Paediatric
Gene: MYH7
MYH7 (myosin heavy chain 7)
EnsemblGeneIds (GRCh38): ENSG00000092054
EnsemblGeneIds (GRCh37): ENSG00000092054
OMIM: 160760, Gene2Phenotype
MYH7 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000092054
EnsemblGeneIds (GRCh37): ENSG00000092054
OMIM: 160760, Gene2Phenotype
MYH7 is in 14 panels
1 review
Ivan Macciocca (Victorian Clinical Genetics Services)
DEFINITIVE by ClinGen HCM working group PMID: 30681346Created: 19 Jun 2020, 2:34 p.m. | Last Modified: 19 Jun 2020, 2:34 p.m.
Panel Version: 0.28
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hypertrophic cardiomyopathy; LVNC; DCM
Publications
- PMID: 30681346
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- London South GLH
- South West GLH
- NHS GMS
- Phenotypes
-
- Left ventricular noncompaction 5
- Cardiomyopathy, familial hypertrophic, 1,
- Hypertrophic cardiomyopathy
- Cardiomyopathy, dilated, 1S
- OMIM
- 160760
- Clinvar variants
- Variants in MYH7
- Penetrance
- None
- Panels with this gene
-
- Transplant Co-Morbidity Superpanel
- Muscular dystrophy and myopathy_Paediatric
- Hypertrophic cardiomyopathy_HCM
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Incidentalome
- Additional findings_Adult
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Cardiomyopathy_Paediatric
- Incidentalome_PREGEN_DRAFT
- Arthrogryposis
- Dilated Cardiomyopathy
- BabyScreen+ newborn screening
History Filter Activity
28 Jul 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MYH7 was added gene: MYH7 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green Mode of inheritance for gene: MYH7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MYH7 were set to Left ventricular noncompaction 5; Cardiomyopathy, familial hypertrophic, 1,; Hypertrophic cardiomyopathy; Cardiomyopathy, dilated, 1S