NKAP

NFKB activating protein
OMIM: 300766, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green NKAP in DDG2P


Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Marfanoid Habitus and Cognitive Impairment
    Green NKAP in Intellectual disability


    Level 2: Developmental disorders
    Version 11.26
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • 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
    Phenotypes
    • Global developmental delay
    • Intellectual disability
    • Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type #301039
    Tags
    • missense