Genomics England
GMS Panels
Panels
Genes and Entities

SELENON

selenoprotein N
OMIM: 606210
PanelMode of inheritanceDetails
6 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 10.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital myopathy 3 with rigid spine, OMIM:602771
Green
in Congenital muscular dystrophy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R79
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, rigid spine, 1, 602771
Green
in Congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R81
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, rigid spine, 1, OMIM:602771
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SELENON-related myopathy
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, rigid spine, 1, OMIM:602771, Congenital myopathy 3 with rigid spine, OMIM:602771
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 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, rigid spine, 1, OMIM:602771