1. Genes and Genomic Entities
  2. SNUPN

SNUPN

snurportin 1
OMIM: 607902, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green SNUPN in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies


Level 2: Neurology
Version 5.29
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Muscular dystrophy, limb-girdle, autosomal recessive 29, OMIM:620793
    Amber SNUPN in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Muscular dystrophy, limb-girdle, autosomal recessive 29, OMIM:620793
    Green SNUPN in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SNUPN-related muscular dystrophy with or without multi-system involvement
    • MONDO:0971171