Genomics England

IKBKG

inhibitor of nuclear factor kappa B kinase subunit gamma

Panel	Mode of inheritance	Details
Filter panels11 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	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
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 4.134	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
Green in Ectodermal dysplasia R-numbers: R163 Signed-off version 3.0	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
Green in Epidermolysis bullosa and congenital skin fragility R-numbers: R164 Signed-off version 2.2	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Incontinentia pigmenti, OMIM:308300
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	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
Green in Incontinentia pigmenti R-numbers: R239 Signed-off version 1.0	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	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)
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 4.123	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
Green in Primary lymphoedema R-numbers: R136 Signed-off version 3.0	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
Green in Retinal disorders R-numbers: R32 Signed-off version 4.42	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
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 4.31	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