Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: MYH7Comment 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
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
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
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Laing distal myopathy, 160500
Publications
Mode of inheritance for gene: MYH7 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYH7 were changed from Laing distal myopathy, OMIM:160500; Laing early-onset distal myopathy, MONDO:0008050; Scapuloperoneal syndrome, myopathic type, OMIM:181430; MYH7-related late-onset scapuloperoneal muscular dystrophy, MONDO:0008409; Cardiomyopathy, hypertrophic, 1, OMIM:192600; Hypertrophic cardiomyopathy 1, MONDO:0008647; Cardiomyopathy, dilated, 1S, OMIM:613426; Dilated cardiomyopathy 1S, MONDO:0013262; 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; Scapuloperoneal syndrome, myopathic type, OMIM:181430
Publications for gene: MYH7 were set to 15322983
Tag Q4_22_MOI 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 Scapuloperoneal syndrome, myopathic type, OMIM:181430 MYH7-related late-onset scapuloperoneal muscular dystrophy, MONDO:0008409; Cardiomyopathy, hypertrophic, 1, OMIM:192600 Hypertrophic cardiomyopathy 1, MONDO:0008647; Cardiomyopathy, dilated, 1S, OMIM:613426 Dilated cardiomyopathy 1S, MONDO:0013262; Myopathy, myosin storage, autosomal dominant, OMIM:608358 Myopathy, myosin storage, autosomal dominant, MONDO:0012018 to Laing distal myopathy, OMIM:160500; Laing early-onset distal myopathy, MONDO:0008050; Scapuloperoneal syndrome, myopathic type, OMIM:181430; MYH7-related late-onset scapuloperoneal muscular dystrophy, MONDO:0008409; Cardiomyopathy, hypertrophic, 1, OMIM:192600; Hypertrophic cardiomyopathy 1, MONDO:0008647; Cardiomyopathy, dilated, 1S, OMIM:613426; Dilated cardiomyopathy 1S, MONDO:0013262; Myopathy, myosin storage, autosomal dominant, OMIM:608358; Myopathy, myosin storage, autosomal dominant, MONDO:0012018
Phenotypes for gene: MYH7 were changed from Laing distal myopathy, 160500; cardiomyopathy; distal myopathy to Laing distal myopathy, OMIM:160500 Laing early-onset distal myopathy, MONDO:0008050 Scapuloperoneal syndrome, myopathic type, OMIM:181430 MYH7-related late-onset scapuloperoneal muscular dystrophy, MONDO:0008409; Cardiomyopathy, hypertrophic, 1, OMIM:192600 Hypertrophic cardiomyopathy 1, MONDO:0008647; Cardiomyopathy, dilated, 1S, OMIM:613426 Dilated cardiomyopathy 1S, MONDO:0013262; Myopathy, myosin storage, autosomal dominant, OMIM:608358 Myopathy, myosin storage, autosomal dominant, MONDO:0012018
Mode of inheritance for gene: MYH7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: myh7 has been classified as Green List (High Evidence).
Source NHS GMS was added to MYH7.
Source Yorkshire and North East GLH was added to MYH7.
Phenotypes for gene: MYH7 were changed from Laing distal myopathy, 160500 to Laing distal myopathy, 160500; cardiomyopathy; distal myopathy
Mode of inheritance for gene MYH7 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Laing distal myopathy, 160500 for gene: MYH7 Publications for gene MYH7 were changed from to 15322983
gene: MYH7 was added gene: MYH7 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: MYH7 was set to