Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: MYH7

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

5 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 5 Dec 2024, 5:12 p.m. | Last Modified: 5 Dec 2024, 5:12 p.m.

Panel Version: 4.40

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 5 Dec 2024, 5:12 p.m.
Last Modified: 5 Dec 2024, 5:12 p.m.
Panel version: 4.40

Arina Puzriakova (Genomics England Curator)

Comment on mode of inheritance: Gene has been re-curated and the MOI should be updated from 'monoallelic' only to 'both mono- and biallelic' at the next GMS panel update.

Association with monoallelic variants is well-established. There are now at least four families in literature with recessive variants and myopathy (PMIDs: 14659406; 25666907; 17372140; 31130376). Most commonly described is scapuloperoneal and proximal distribution of muscle weakness, which are within the scope of this panel.
Created: 10 Oct 2022, 2:29 p.m. | Last Modified: 10 Oct 2022, 2:29 p.m.

Panel Version: 2.47

Created: 10 Oct 2022, 2:29 p.m.
Last Modified: 10 Oct 2022, 2:29 p.m.
Panel version: 2.47

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Changed from 'both' to monoallelic due to the publication provided by the reviewers and mode of inheritance provided in OMIM for this phenotype. To confirm with the reviewers.
Created: 28 Nov 2019, 4:43 p.m. | Last Modified: 28 Nov 2019, 4:43 p.m.

Panel Version: 1.139

Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Created: 28 Nov 2019, 4:41 p.m. | Last Modified: 28 Nov 2019, 4:41 p.m.

Panel Version: 1.138

Created: 28 Nov 2019, 4:41 p.m.
Last Modified: 28 Nov 2019, 4:41 p.m.
Panel version: 1.138

Chiara Marini Bettolo (NUTH)

Green List (high evidence)

Scapuloperoneal syndrome. Variable phenotype fromsevere cardiomyopathy, distal myopathy, proximal and distal myopathy and asymptomatic hyperCKemia.
Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.

Panel Version: 1.97

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Laing distal myopathy; cardiomyopathy; distal myopathy

Publications

15322983

Created: 10 May 2019, 2:19 p.m.

Panel version: 1.97

Ana Topf (John Walton Muscular Dystrophy Research Centre)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Laing distal myopathy, 160500

Publications

15322983

Created: 17 Apr 2019, 12:40 p.m.

Panel version: 1.17

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS
Yorkshire and North East GLH
Expert Review

Phenotypes

Laing distal myopathy, OMIM:160500
Myopathy, myosin storage, autosomal dominant, OMIM:608358
Myopathy, myosin storage, autosomal recessive, OMIM:255160
Scapuloperoneal syndrome, myopathic type, OMIM:181430

OMIM

160760

Clinvar variants

Variants in MYH7

Penetrance

None

Publications

Panels with this gene

History Filter Activity

5 Dec 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_22_MOI was removed from gene: MYH7.

5 Dec 2024, Gel status: 3

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene MYH7 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

10 Oct 2022, Gel status: 3