Ectodermal dysplasia without a known gene mutation
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
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Ectodermal dysplasia and immunodeficiency 1, OMIM:300291
- OMIM
- 300248
- Clinvar variants
- Variants in IKBKG
- Penetrance
- Complete
- Panels with this gene
-
- Rare genetic inflammatory skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Retinal disorders
- DDG2P
- COVID-19 research
- Ectodermal dysplasia
- 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 Incontinentia pigmenti, type II, 308300; Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301; Immunodeficiency, isolated, 300584; {Atypical mycobacteriosis, familial}, 300636:Invasive pneumococcal disease, recurrent isolated, 2, 300640; Ectodermal Dysplasia, Hypohidrotic, With Immune Deficiency to Ectodermal dysplasia and immunodeficiency 1, OMIM:300291
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 10th August 2016
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for IKBKG was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added New Source
Ellen McDonagh (Genomics England Curator)IKBKG was added to Ectodermal dysplasia without a known gene mutationpanel. Source: UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)IKBKG was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Radboud University Medical Center, Nijmegen