NKAP

NFKB activating protein
OMIM: 300766, Gene2Phenotype

2 panels

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


Version 3.79
Latest signed off version: v3.1 (22 Mar 2023)

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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.453
    Latest signed off version: v5.0 (22 Mar 2023)

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