Ectodermal dysplasia
Gene: IKBKGEnsemblGeneIds (GRCh38): ENSG00000269335
EnsemblGeneIds (GRCh37): ENSG00000073009
OMIM: 300248, Gene2Phenotype
IKBKG is in 19 panels
2 reviews
John McGrath (King's College London)
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 and immunodeficiency 1, OMIM:300291
- OMIM
- 300248
- Clinvar variants
- Variants in IKBKG
- Penetrance
- None
- Panels with this gene
-
- Rare genetic inflammatory skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- COVID-19 research
- Ectodermal dysplasia
- Retinal disorders
- Epidermolysis bullosa and congenital skin fragility
- Ectodermal dysplasia without a known gene mutation
- Structural eye disease
- Mosaic skin disorders - deep sequencing
- Incontinentia pigmenti
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- Primary lymphoedema
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Autoinflammatory disorders
- Intellectual disability
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: IKBKG were changed from 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 to Ectodermal dysplasia and immunodeficiency 1, OMIM:300291
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