MYH7

myosin heavy chain 7
OMIM: 160760
PanelMode of inheritanceDetails
8 panels
R-numbers: R135
Signed-off version 2.2
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R81
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
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
Component of the following Super Panels:
  • - Sudden unexplained death or survivors of a cardiac event
R-numbers: R132
Signed-off version 2.1
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 2.1
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
R-numbers: R21, R412
Signed-off version 2.4
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
Component of the following Super Panels:
  • - Sudden unexplained death or survivors of a cardiac event
R-numbers: R131
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, hypertrophic, 1, OMIM:192600, Hypertrophic cardiomyopathy 1, MONDO:0008647
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.1
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