CXorf56

chromosome X open reading frame 56
Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green CXorf56 in Intellectual disability


Level 2: Developmental disorders
Version 9.285
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 Green
    • Radboud University Medical Center, Nijmegen
    • Literature
    Phenotypes
    • Intellectual developmental disorder, X-linked 107, OMIM:301013
    Tags
    • new-gene-name
    • Skewed X-inactivation
    • gene-checked