NKAP

NFKB activating protein
OMIM: 300766, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green NKAP in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 1.1

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • 1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual developmental disorder, X-linked syndromic, Hackman-Di Donato type, MIM# 301039

    Green NKAP in Mendeliome


    Version 1.3795

    2 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type, MONDO:0026733, MIM#301039

    Green NKAP in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.497

    1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type, MONDO:0026733, MIM#301039