NKAP

NFKB activating protein
OMIM: 300766, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green NKAP in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1677
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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