Genomics England

MYH7

myosin heavy chain 7

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Congenital myopathy Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R81 Signed-off version 5.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Laing distal myopathy, OMIM:160500, Myopathy, myosin storage, autosomal dominant, OMIM:608358, Myopathy, myosin storage, autosomal recessive, OMIM:255160
Green in Dilated and arrhythmogenic cardiomyopathy Component of the following Super Panels: - Sudden unexplained death or survivors of a cardiac event - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R132 Signed-off version 2.32	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Cardiomyopathy, dilated, 1S, OMIM:613426, Dilated cardiomyopathy 1S, MONDO:0013262, Laing distal myopathy, OMIM:160500, Laing early-onset distal myopathy, MONDO:0008050
Green in Distal myopathies Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 6.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes 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
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Laing distal myopathy, OMIM:160500, Laing early-onset distal myopathy, MONDO:0008050, Cardiomyopathy, hypertrophic, 1, OMIM:192600, Hypertrophic cardiomyopathy 1, MONDO:0008647, Cardiomyopathy, dilated, 1S, OMIM:613426, Dilated cardiomyopathy 1S, MONDO:0013262, Left ventricular noncompaction 5, OMIM:613426
Green in Hypertrophic cardiomyopathy Component of the following Super Panels: - Sudden unexplained death or survivors of a cardiac event - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R131 Signed-off version 4.16	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cardiomyopathy, hypertrophic, 1, OMIM:192600, Hypertrophic cardiomyopathy 1, MONDO:0008647
Green in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R82 Signed-off version 4.37	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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
Green in Paediatric disorders - additional genes Component of the following Super Panels: - Paediatric disorders Signed-off version 6.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes 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, Left ventricular noncompaction 5, OMIM:613426
Green in Paediatric or syndromic cardiomyopathy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R135 Signed-off version 6.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Cardiomyopathy, hypertrophic, 1, OMIM:192600, Hypertrophic cardiomyopathy 1, MONDO:0008647, Cardiomyopathy, dilated, 1S, OMIM:613426, Dilated cardiomyopathy 1S, MONDO:0013262, Left ventricular noncompaction 5, OMIM:613426