Genomics England
GMS Panels
Panels
Genes and Entities

DES

desmin
OMIM: 125660
PanelMode of inheritanceDetails
6 panels
Green
in Arrhythmogenic right ventricular 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: R133
Signed-off version 3.12
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cardiomyopathy, dilated, 1I (604765), Myopathy, myofibrillar, 1 (601419), Scapuloperoneal syndrome, neurogenic, Kaeser type (181400)
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
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,
Green
in Distal myopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 5.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy, myofibrillar 1, 601419
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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, type 2R, 615325, myofibrillar myopathy, cardiomyopathy, limb girdle muscular dystrophy
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 5.13
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cardiomyopathy, dilated, 1I,
Green
in Progressive cardiac conduction disease
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: R328
Signed-off version 2.9
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Desminopathy-associated AV conduction block, atrioventricular block (disease), MONDO:0000465