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  3. IKBKG
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Intellectual_disability

Gene: IKBKG

Red List (low evidence)
IKBKG (inhibitor of nuclear factor kappa B kinase subunit gamma)
EnsemblGeneIds (GRCh38): ENSG00000269335
EnsemblGeneIds (GRCh37): ENSG00000073009
OMIM: 300248, Gene2Phenotype
IKBKG is in 19 panels

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Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Known gene (Grozeva et al, 2015)
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Incontinentia pigmenti, type II, 308300Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301Immunodeficiency, isolated, 300584{Atypical mycobacteriosis, familial}, 300636Invasive pneumococcal disease, recurrent isolated, 2, 300640
  • Intellectual disability
OMIM
300248
Clinvar variants
Variants in IKBKG
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene IKBKG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

IKBKG was added to Intellectual_disabilitypanel. Source: Known gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

IKBKG was added to Intellectual_disabilitypanel. Sources: Radboud University Medical Center, Nijmegen