DES

PanelMode of inheritanceDetails
6 panels
Component of the following Super Panels:
  • - Sudden unexplained death or survivors of a cardiac event
R-numbers: R133
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cardiomyopathy, dilated, 1I (604765), Myopathy, myofibrillar, 1 (601419), Scapuloperoneal syndrome, neurogenic, Kaeser type (181400)
R-numbers: R135
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cardiomyopathy, dilated, 1I,
Component of the following Super Panels:
  • - Sudden unexplained death or survivors of a cardiac event
R-numbers: R132
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Scapuloperoneal syndrome, neurogenic, Kaeser type (181400), Myopathy, myofibrillar, 1 (601419), Cardiomyopathy, dilated, 1I, (604765), Cardiomyopathy, dilated, 1I,
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy, myofibrillar 1, 601419
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, type 2R, 615325, myofibrillar myopathy, cardiomyopathy, limb girdle muscular dystrophy
Component of the following Super Panels:
  • - Sudden unexplained death or survivors of a cardiac event
R-numbers: R328
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Desminopathy-associated AV conduction block, atrioventricular block (disease), MONDO:0000465