Sudden cardiac death - previous panel
Gene: MYH7EnsemblGeneIds (GRCh38): ENSG00000092054
EnsemblGeneIds (GRCh37): ENSG00000092054
OMIM: 160760, Gene2Phenotype
MYH7 is in 14 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
James Eden (Manchester)
Gene currently tested on Manchester cardiac gene panel. 1002 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: definitive association with hypertrophic cardiomyopathy 1 (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiomyopathy, dilated, 1S (613426); Cardiomyopathy, hypertrophic, 1 (192600); Laing distal myopathy (160500); Left ventricular noncompaction 5 (613426); Myopathy, myosin storage, autosomal dominant (608358); Myopathy, myosin storage, autosomal recessive (255160); Scapuloperoneal syndrome, myopathic type (181430)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- London South GLH
- North West GLH
- Expert Review Green
- London South GLH
- North West GLH
- Expert Review Green
- Phenotypes
-
- Cardiomyopathy, hypertrophic, 1 (192600)
- Hypertrophic cardiomyopathy
- Cardiomyopathy, familial hypertrophic, 1,
- Myopathy, myosin storage, autosomal dominant (608358)
- Left ventricular noncompaction 5
- Laing distal myopathy (160500)
- Left ventricular noncompaction 5 (613426)
- Cardiomyopathy, dilated, 1S
- Cardiomyopathy, dilated, 1S (613426)
- Scapuloperoneal syndrome, myopathic type (181430)
- Myopathy, myosin storage, autosomal recessive (255160)
- OMIM
- 160760
- Clinvar variants
- Variants in MYH7
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary neuropathy or pain disorder
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Dilated Cardiomyopathy and conduction defects
- Hereditary neuropathy
- Fetal hydrops
- Distal myopathies
- Arthrogryposis
- Dilated and arrhythmogenic cardiomyopathy
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Paediatric disorders - additional genes
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Left Ventricular Noncompaction Cardiomyopathy
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: MYH7 was added gene: MYH7 was added to Sudden cardiac death. Sources: Expert Review Green,North West GLH,London South GLH Mode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYH7 were set to 27532257; 28369730; 20186049 Phenotypes for gene: MYH7 were set to Cardiomyopathy, hypertrophic, 1 (192600); Hypertrophic cardiomyopathy; Cardiomyopathy, familial hypertrophic, 1,; Myopathy, myosin storage, autosomal dominant (608358); Left ventricular noncompaction 5; Laing distal myopathy (160500); Left ventricular noncompaction 5 (613426); Cardiomyopathy, dilated, 1S; Cardiomyopathy, dilated, 1S (613426); Scapuloperoneal syndrome, myopathic type (181430); Myopathy, myosin storage, autosomal recessive (255160)