Genomics England

DNM2

dynamin 2

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 7.7	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Lethal congenital contracture syndrome 5 615368
Green in Congenital myopathy Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R81 Signed-off version 4.42	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Centronuclear myopathy 1, OMIM:160150, Lethal congenital contracture syndrome 5, OMIM:615368
Green in Distal myopathies Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 5.2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Centronuclear myopathy 1, OMIM:160150
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Lethal congenital contracture syndrome 5, 615368
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 5.16	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Charcot Marie Tooth disease, dominant intermediate B, 606482, Lethal congenital contracture syndrome 5, 615368, Charcot Marie Tooth disease, axonal, type 2M, 606482, Myopathy, centronuclear, 160150, Charcot-Marie-Tooth, Intermediate
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 6.14	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Centronuclear myopathy 1 160150, Charcot-Marie-Tooth disease, axonal type 2M 606482, Charcot-Marie-Tooth disease, dominant intermediate B 606482
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 7.4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Centronuclear myopathy 1, 160150, Charcot-Marie-Tooth disease, axonal type 2M, 606482, Charcot-Marie-Tooth disease, dominant intermediate B, 606482
Green in Mitochondrial DNA maintenance disorder R-numbers: R352 Signed-off version 3.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Charcot-Marie-Tooth disease, dominant intermediate B, 606482, Charcot-Marie-Tooth disease, axonal type 2M, 606482, Centronuclear myopathy 1, 160150
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Charcot-Marie-Tooth disease, dominant intermediate B, 606482, Charcot-Marie-Tooth disease, axonal type 2M, 606482, Centronuclear myopathy 1, 160150