Genomics England

IKBKG

inhibitor of nuclear factor kappa B kinase subunit gamma

Panel	Mode of inheritance	Details
Filter panels12 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.48	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 7.54	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Incontinentia pigmenti, OMIM:308300
Green in Ectodermal dysplasia R-numbers: R163 Signed-off version 3.35	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Ectodermal dysplasia and immunodeficiency 1, OMIM:300291
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 5.80	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 8.134	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Incontinentia pigmenti, OMIM:308300
Green in Mosaic skin disorders - deep sequencing R-numbers: R327 Signed-off version 2.49	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Incontinentia pigmenti, OMIM:308300
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 7.26	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Ectodermal dysplasia and immunodeficiency 1, OMIM:300291, Immunodeficiency 33, OMIM:300636
Green in Primary lymphoedema R-numbers: R136 Signed-off version 3.13	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Ectodermal dysplasia and immunodeficiency 1, OMIM:300291
Green in Retinal disorders R-numbers: R32 Signed-off version 7.8	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Incontinentia pigmenti, OMIM:308300
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 7.26	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Ectodermal dysplasia and immunodeficiency 1, OMIM:300291