Ectodermal dysplasia

Gene: IKBKG

Green List (high evidence)

IKBKG (inhibitor of nuclear factor kappa B kinase subunit gamma)
EnsemblGeneIds (GRCh38): ENSG00000269335
EnsemblGeneIds (GRCh37): ENSG00000073009
OMIM: 300248, Gene2Phenotype
IKBKG is in 18 panels

2 reviews

John McGrath (King's College London)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Hypohidrotic ectodermal dysplasia, with immune deficiency; Incontinentia pigmenti

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed in G2P.
Created: 22 Jul 2016, 2:28 p.m.
Comment on list classification: Promoted from amber to green due to expert review. It is also a confirmed DD gene for ectodermal dysplasia anhidrotic with immunodeficiency X-linked, and ectodermal dysplasia anhidrotic with immunodeficiency-osteopetrosis lymphedema.
Created: 22 Jul 2016, 2:28 p.m.
Please note the suggested mode of inheritance under John McGrath's evaluation was automatically transferred from the original sources and was not provided in his review.
Created: 19 Nov 2015, 3:17 p.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
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
OMIM
300248
Clinvar variants
Variants in IKBKG
Penetrance
None
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: IKBKG was added gene: IKBKG was added to Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IKBKG were set to 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