Congenital myopathy
Gene: MYH7Comment 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
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.
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
re inheritance mode: recessive variants in MYH7 are now well recognised in patients with congenital myopathiesCreated: 24 Mar 2023, 11:48 a.m. | Last Modified: 24 Mar 2023, 11:48 a.m.
Panel Version: 4.2
please note that rare biallelic MOI is describedCreated: 6 Mar 2017, 12:14 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Laing Distal Myopathy 160500; congenital myopathy
Publications
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 613426Created: 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 181430Created: 26 Jan 2017, 11:40 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Laing distal myopathy 160500
Publications
Tag Q2_23_NHS_review tag was added to gene: MYH7.
Phenotypes for gene: MYH7 were changed from 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 to Laing distal myopathy, OMIM:160500; Myopathy, myosin storage, autosomal dominant, OMIM:608358; Myopathy, myosin storage, autosomal recessive, OMIM:255160
Publications for gene: MYH7 were set to 15322983
Mode of inheritance for gene: MYH7 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Tag Q4_22_MOI tag was added to gene: MYH7.
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
Source NHS GMS was added to MYH7.
Source London South GLH was added to MYH7. Rating Changed from Green List (high evidence) to Green List (high evidence)
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.
This gene has been classified as Green List (High Evidence).
Phenotypes for MYH7 were set to Laing Distal Myopathy 160500
Mode of inheritance for MYH7 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for MYH7 were set to 15322983
MYH7 was added to Congenital myopathypanel. Sources: Expert
MYH7 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen
MYH7 was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services
MYH7 was added to Congenital myopathypanel. Sources: UKGTN