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Molecular autopsy

Gene: MYH7

Green List (high evidence)
MYH7 (myosin heavy chain 7)
EnsemblGeneIds (GRCh38): ENSG00000092054
EnsemblGeneIds (GRCh37): ENSG00000092054
OMIM: 160760, Gene2Phenotype
MYH7 is in 14 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

I don't know

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.
Created: 20 Feb 2019, 2:17 p.m.

Panel version: 0.86

James Eden (Manchester)

Green List (high evidence)

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

Created: 14 Feb 2019, 1:38 p.m.

Panel version: 0.82

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London South GLH
  • North West GLH
  • Expert Review Green
Phenotypes
  • Left ventricular noncompaction 5 (613426)
  • Myopathy, myosin storage, autosomal dominant (608358)
  • Cardiomyopathy, familial hypertrophic, 1,
  • Hypertrophic cardiomyopathy
  • Laing distal myopathy (160500)
  • Cardiomyopathy, dilated, 1S
  • Myopathy, myosin storage, autosomal recessive (255160)
  • Cardiomyopathy, hypertrophic, 1 (192600)
  • Left ventricular noncompaction 5
  • Cardiomyopathy, dilated, 1S (613426)
  • Scapuloperoneal syndrome, myopathic type (181430)
OMIM
160760
Clinvar variants
Variants in MYH7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to MYH7.

14 Feb 2019, Gel status: 4

Added New Source, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to MYH7. Added phenotypes Left ventricular noncompaction 5 (613426); Myopathy, myosin storage, autosomal dominant (608358); Laing distal myopathy (160500); Myopathy, myosin storage, autosomal recessive (255160); Cardiomyopathy, hypertrophic, 1 (192600); Cardiomyopathy, dilated, 1S (613426); Scapuloperoneal syndrome, myopathic type (181430) for gene: MYH7 Publications for gene MYH7 were changed from to 27532257; 20186049; 28369730

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: MYH7 was added gene: MYH7 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYH7 were set to Left ventricular noncompaction 5; Cardiomyopathy, familial hypertrophic, 1,; Hypertrophic cardiomyopathy; Cardiomyopathy, dilated, 1S