IKBKG

inhibitor of nuclear factor kappa B kinase subunit gamma
OMIM: 300248
PanelMode of inheritanceDetails
10 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
SUSCEPTIBILITY TO X-LINKED FAMILIAL ATYPICAL MICOBACTERIOSIS TYPE 1 300636, IMMUNODEFICIENCY NEMO-RELATED WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA 300584, ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA 300301, ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY X-LINKED 300291, INCONTINENTIA PIGMENTI 308300
R-numbers: R163
Signed-off version 1.10
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Ectodermal Dysplasia, Hypohidrotic, With Immune Deficiency, Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301, {Atypical mycobacteriosis, familial}, 300636:Invasive pneumococcal disease, recurrent isolated, 2, 300640, Immunodeficiency, isolated, 300584, Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291, Incontinentia pigmenti, type II, 308300
R-numbers: R164
Signed-off version 1.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
R-numbers: R21
Signed-off version 1.92
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
SUSCEPTIBILITY TO X-LINKED FAMILIAL ATYPICAL MICOBACTERIOSIS TYPE 1, INCONTINENTIA PIGMENTI, ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA, ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY X-LINKED, IMMUNODEFICIENCY NEMO-RELATED WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA
R-numbers: R59
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Incontinentia pigmenti, 308300
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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, INCONTINENTIA PIGMENTI (IP)
R-numbers: R15
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Immunodeficiency 33, 300636, Ectodermal dysplasia, hypohidrotic, with immune deficiency 300291, Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301, Immunodeficiency, isolated, 300584, Invasive pneumococcal disease, recurrent isolated, 2,300640, Defects of TLR/NFkappa-B signalling, Anhidrotic ectodermal dysplasia (in some), various infections (bacteria, mycobacteria, viruses and fungi), colitis, conical teeth, variable defects of skin, hair and teeth, monocyte dysfunction, Combined immunodeficiencies with associated or syndromic features
R-numbers: R136
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301
R-numbers: R32, R33, R34, R35
Signed-off version 2.7
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Incontinentia pigmenti, 308300
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Incontinentia pigmenti 308300, Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301