Muscular dystrophy and myopathy_Paediatric
Gene: MYH7EnsemblGeneIds (GRCh38): ENSG00000092054
EnsemblGeneIds (GRCh37): ENSG00000092054
OMIM: 160760, Gene2Phenotype
MYH7 is in 14 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Congenital myopathy reported in >4 cases/families (e.g. core myopathy). The mechanism for disease is dominant negative.
Sources: LiteratureCreated: 1 Aug 2024, 12:28 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
MYH7-related skeletal myopathy MONDO:0008050
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Variable age of onset of symptoms, including in childhood.
Sources: Expert listCreated: 3 Jun 2020, 8:41 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Laing distal myopathy, MIM# 160500; Myopathy, myosin storage, autosomal dominant, MIM# 608358; Myopathy, myosin storage, autosomal recessive, MIM# 255160
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Expert Review Green
- Expert list
- Phenotypes
-
- MYH7-related skeletal myopathy MONDO:0008050
- OMIM
- 160760
- Clinvar variants
- Variants in MYH7
- Penetrance
- None
- Publications
- 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
Bryony Thompson (Royal Melbourne Hospital)Gene: myh7 has been classified as Green List (High Evidence).
Set mode of pathogenicity
Bryony Thompson (Royal Melbourne Hospital)Mode of pathogenicity for gene: MYH7 was changed from None to None
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: myh7 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: MYH7 was added gene: MYH7 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYH7 were set to 38982518; 15322983 Phenotypes for gene: MYH7 were set to MYH7-related skeletal myopathy MONDO:0008050 Review for gene: MYH7 was set to GREEN gene: MYH7 was marked as current diagnostic