Genomics England

DMD

dystrophin

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Acute rhabdomyolysis R-numbers: R419 Signed-off version 1.7	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Becker muscular dystrophy, OMIM:300376, Exercise induced crams and myoglobinuria
Green in Congenital muscular dystrophy Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R79 Signed-off version 5.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Becker muscular dystrophy, OMIM:300376, Duchenne muscular dystrophy, OMIM:310200
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes DUCHENNE MUSCULAR DYSTROPHY 310200, BECKER MUSCULAR DYSTROPHY 300376, CARDIOMYOPATHY DILATED X-LINKED TYPE 3B 302045
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	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Becker muscular dystrophy, 300376, Cardiomyopathy, dilated, 3B, 302045, Duchenne muscular dystrophy, 310200
Green in Duchenne or Becker muscular dystrophy R-numbers: R73 Signed-off version 1.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Duchenne muscular dystrophy, 310200Becker muscular dystrophy, 300376Cardiomyopathy, dilated, 3B, 302045, BECKER MUSCULAR DYSTROPHY (BMD)
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	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Duchenne muscular dystrophy 310200, Becker muscular dystrophy 300376
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	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Duchenne muscular dystrophy, 310200, Dilated Cardiomyopathy, X-Linked, Cardiomyopathy, dilated, 3B, Becker muscular dystrophy, 300376
Green in Rhabdomyolysis and metabolic muscle disorders Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 5.1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Becker muscular dystrophy 300376