DNM2

PanelMode of inheritanceDetails
8 panels
R-numbers: R83
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lethal congenital contracture syndrome 5 615368
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
Myopathy, centronuclear, 160150, Charcot-Marie-Tooth disease, axonal, type 2M, 606482
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.21
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myopathy, centronuclear, 160150
R-numbers: R78
Signed-off version 1.36
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
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
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Centronuclear myopathy 1, 160150, Charcot-Marie-Tooth disease, axonal type 2M, 606482, Charcot-Marie-Tooth disease, dominant intermediate B, 606482
R-numbers: R352
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Charcot-Marie-Tooth disease, dominant intermediate B, 606482, Charcot-Marie-Tooth disease, axonal type 2M, 606482, Centronuclear myopathy 1, 160150
R-numbers: R63
Signed-off version 1.17
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Charcot-Marie-Tooth disease, dominant intermediate B, 606482, Charcot-Marie-Tooth disease, axonal type 2M, 606482, Centronuclear myopathy 1, 160150