NXF5

nuclear RNA export factor 5
OMIM: 300319, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red NXF5 in Intellectual disability


Level 2: Developmental disorders
Version 9.330
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Red
    Phenotypes
    • Intellectual Disability
    Red NXF5 in Proteinuric renal disease


    Level 2: Renal
    Version 5.9
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease
  • review Not set
    Sources
    • NHS GMS
    Phenotypes
    • FSGS
    • heart-block disorder