Congenital Heart Defect
Gene: MYH7EnsemblGeneIds (GRCh38): ENSG00000092054
EnsemblGeneIds (GRCh37): ENSG00000092054
OMIM: 160760, Gene2Phenotype
MYH7 is in 14 panels
1 review
Teresa Zhao (Victorian Clinical Genetics Services)
PMID: 21127202 showed MYH7 is related to Ebstein anomaly (a rare congenital heart malformation) in multiple affected individualsCreated: 10 Aug 2021, 4:07 a.m. | Last Modified: 10 Aug 2021, 4:07 a.m.
Panel Version: 0.120
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Ebstein anomaly
Publications
- PMID: 21127202
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Ebstein anomaly
- OMIM
- 160760
- Clinvar variants
- Variants in MYH7
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: myh7 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MYH7 were changed from to Ebstein anomaly
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: MYH7 were set to
Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of pathogenicity for gene: MYH7 was changed from to Other
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: MYH7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MYH7 was added gene: MYH7 was added to Congenital Heart Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MYH7 was set to Unknown