MYH7

myosin heavy chain 7
OMIM: 160760
PanelMode of inheritanceDetails
8 panels
R-numbers: R83
Signed-off version 3.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Laing Distal Myopathy, Cardiomyopathy, familial hypertrophic, 1, 192600, Myopathy, myosin storage, autosomal recessive 255160, Myopathy, myosin storage, autosomal dominant 608358
R-numbers: R135
Signed-off version 1.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hypertrophic cardiomyopathy, Cardiomyopathy, dilated, 1S, Left ventricular noncompaction 5, Cardiomyopathy, familial hypertrophic, 1,
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R81
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Laing Distal Myopathy 160500
Component of the following Super Panels:
  • - Sudden cardiac death
R-numbers: R132
Signed-off version 1.6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiomyopathy, dilated, 1S (613426), Cardiomyopathy, dilated, 1S, Myopathy, myosin storage, autosomal recessive (255160), Scapuloperoneal syndrome, myopathic type (181430), Myopathy, myosin storage, autosomal dominant (608358), Cardiomyopathy, hypertrophic, 1 (192600), Left ventricular noncompaction 5 (613426), Laing distal myopathy (160500)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.21
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Laing distal myopathy, 160500
Component of the following Super Panels:
  • - Sudden cardiac death
R-numbers: R131
Signed-off version 2.11
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Left ventricular noncompaction 5 (613426), Myopathy, myosin storage, autosomal dominant (608358), Laing distal myopathy (160500), Myopathy, myosin storage, autosomal recessive (255160), Cardiomyopathy, hypertrophic, 1 (192600), Cardiomyopathy, dilated, 1S (613426), Scapuloperoneal syndrome, myopathic type (181430), Cardiomyopathy, familial hypertrophic, 1,
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Laing distal myopathy, 160500, cardiomyopathy, distal myopathy
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 1.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cardiomyopathy, dilated, 1S, Left ventricular noncompaction 5, Cardiomyopathy, hypertrophic, 1, Myopathy, myosin storage, autosomal recessive, Myopathy, myosin storage, autosomal dominant, Scapuloperoneal syndrome, myopathic type, Laing distal myopathy