Congenital muscular dystrophy and congenital myopathy

Gene: MYH7

Anna Sarkozy (Great Ormond Street Hospital) reviewing this gene on the old GMS Congenital myopathy panel notes (rated Green): 're inheritance mode: recessive variants in MYH7 are now well recognised in patients with congenital myopathies'.

Phenotypes: Laing Distal Myopathy 160500; congenital myopathy

Publications: 15322983; 31130376; 31130376

Created: 22 Dec 2023, 11:19 a.m. | Last Modified: 22 Dec 2023, 11:19 a.m.

Panel Version: 0.213

Green List (high evidence)

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: 2 May 2024, 3:45 p.m. | Last Modified: 2 May 2024, 4:01 p.m.

Panel Version: 0.229

Comment on mode of inheritance: There are now at least four families in literature with recessive variants and myopathy (PMIDs: 14659406; 25666907; 17372140; 31130376). Congenital manifestation in some cases. Therefore, the MOI can now be updated from 'monoallelic' to 'both mono- and biallelic' at the next GMS panel update.

Created: 10 Oct 2022, 2:15 p.m. | Last Modified: 10 Oct 2022, 2:15 p.m.

Panel Version: 2.91

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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.

Green List (high evidence)

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

Phenotypes
Laing Distal Myopathy 160500

Publications

• 15322983

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

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

• 15322983

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

• PMID 15322983