Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: MYH7EnsemblGeneIds (GRCh38): ENSG00000092054
EnsemblGeneIds (GRCh37): ENSG00000092054
OMIM: 160760, Gene2Phenotype
MYH7 is in 14 panels
2 reviews
Crystle Lee (Victorian Clinical Genetics Services)
Associated with a spectrum of skeletal myopathies which includes a scapuloperoneal or limb-girdle muscle form.
Sources: Expert ReviewCreated: 1 Jul 2020, 12:17 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Laing distal myopathy (MIM#160500); Scapuloperoneal syndrome, myopathic type (MIM#181430)
Publications
Mode of pathogenicity
Other
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, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert Review Green
- Expert list
- Phenotypes
-
- Laing distal myopathy (MIM#160500)
- Scapuloperoneal syndrome, myopathic type (MIM#181430)
- 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
Bryony Thompson (Royal Melbourne Hospital)Gene: myh7 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: myh7 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: myh7 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Crystle Lee (Victorian Clinical Genetics Services)gene: MYH7 was added gene: MYH7 was added to Limb Girdle Muscular Dystrophy. Sources: Expert Review Mode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYH7 were set to 27387980; 20733148 Phenotypes for gene: MYH7 were set to Laing distal myopathy (MIM#160500); Scapuloperoneal syndrome, myopathic type (MIM#181430) Mode of pathogenicity for gene: MYH7 was set to Other Review for gene: MYH7 was set to AMBER