Congenital myopathy

Gene: MYH7

Green List (high evidence)

MYH7 (myosin heavy chain 7)
EnsemblGeneIds (GRCh38): ENSG00000092054
EnsemblGeneIds (GRCh37): ENSG00000092054
OMIM: 160760, Gene2Phenotype
MYH7 is in 15 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 30 Apr 2019, 10:09 a.m.

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Laing Distal Myopathy 160500

Publications

Variants in this GENE are reported as part of current diagnostic practice

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

please note that rare biallelic MOI is described
Created: 6 Mar 2017, 12:14 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Laing Distal Myopathy 160500

Publications

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Laing distal myopathy has variable presentation but can span infancy therefore considered appropriate for inclusion. Other phenotypes are more typical for this gene however, including Cardiomyopathy.
Created: 2 Feb 2017, noon
Comment on phenotypes: Other phenotypes are associated with this gene; Cardiomyopathy, dilated, 1S 613426; Cardiomyopathy, hypertrophic, 1 192600; Left ventricular noncompaction 5 613426
Created: 2 Feb 2017, 11:59 a.m.
Comment on mode of inheritance: A recessive form of myopathy has been attributed to MYH7, however insufficient cases identified to list this as a MOI at present.
Created: 2 Feb 2017, 11:57 a.m.
Laing distal myopathy has variable presentation but can span infancy therefore considered appropriate for inclusion. Other phenotypes are more typical for this gene however, including Cardiomyopathy. A recessive form of myopathy has been attributed to MYH7, however insufficient cases identified to list this as a MOI at present. OMIM list of other phenotypes below:
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 AR; Scapuloperoneal syndrome, myopathic type 181430
Created: 26 Jan 2017, 11:40 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Laing distal myopathy 160500

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Laing distal myopathy, OMIM:160500
  • Laing early-onset distal myopathy, MONDO:0008050
  • Myopathy, myosin storage, autosomal dominant, OMIM:608358
  • Myopathy, myosin storage, autosomal dominant, MONDO:0012018
OMIM
160760
Clinvar variants
Variants in MYH7
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Dec 2020, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MYH7 were changed from Laing Distal Myopathy 160500 to Laing distal myopathy, OMIM:160500; Laing early-onset distal myopathy, MONDO:0008050; Myopathy, myosin storage, autosomal dominant, OMIM:608358; Myopathy, myosin storage, autosomal dominant, MONDO:0012018

30 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MYH7.

30 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to MYH7. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Feb 2017, Gel status: 4

panel promoted to version 1

Helen Brittain (Genomics England Curator)

Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.

2 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Feb 2017, Gel status: 3

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for MYH7 were set to Laing Distal Myopathy 160500

2 Feb 2017, Gel status: 3

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for MYH7 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

2 Feb 2017, Gel status: 3

Set publications

Helen Brittain (Genomics England Curator)

Publications for MYH7 were set to 15322983

13 May 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

MYH7 was added to Congenital myopathypanel. Sources: Expert

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

MYH7 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

MYH7 was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

MYH7 was added to Congenital myopathypanel. Sources: UKGTN