SELENON

PanelMode of inheritanceDetails
4 panels
R-numbers: R83
Signed-off version 3.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, rigid spine, 1, 602771, Myopathy, congenital, with fiber-type disproportion 255310
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R79
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, rigid spine, 1, 602771
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R81
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, rigid spine, 1 602771, Myopathy, congenital, with fiber-type disproportion 255310
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, rigid spine, 1, 602771, congenital myopathy, muscular dystophy, rigid spine syndrome