Genomics England
GMS Panels
Panels
Genes and Entities

NKAP

NFKB activating protein
OMIM: 300766
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Marfanoid Habitus and Cognitive Impairment
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Global developmental delay, Intellectual disability, Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type #301039