1. Genes and Genomic Entities
  2. SELENON

SELENON

selenoprotein N
OMIM: 606210, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green SELENON in Congenital muscular dystrophy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.24
Latest signed off version: v4.23 (1 May 2024)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London South GLH
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    Phenotypes
    • Muscular dystrophy, rigid spine, 1, 602771
    Green SELENON in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.3
    Latest signed off version: v6.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Expert
    • UKGTN
    • Expert list
    Phenotypes
    • Congenital myopathy 3 with rigid spine, OMIM:602771
    Green SELENON in Congenital myopathy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.38
    Latest signed off version: v4.37 (1 May 2024)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London South GLH
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Muscular dystrophy, rigid spine, 1, OMIM:602771
    Green SELENON in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.33
    Latest signed off version: v4.32 (1 May 2024)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review
    Phenotypes
    • Muscular dystrophy, rigid spine, 1, OMIM:602771
    Red SELENON in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE Additional Gene List
    Phenotypes
    • Muscular dystrophy, rigid spine, 1, OMIM:602771
    Green SELENON in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SELENON-related myopathy
    Green SELENON in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Congenital myopathy 3 with rigid spine, OMIM:602771