Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: IKBKGEnsemblGeneIds (GRCh38): ENSG00000269335
EnsemblGeneIds (GRCh37): ENSG00000073009
OMIM: 300248, Gene2Phenotype
IKBKG is in 19 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from amber to green due to expert review and curated evidence.Created: 12 Oct 2016, 9:07 a.m.
Neil shah (GOSH)
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM and G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel. At least 12 variants reported.
Created: 6 Sep 2016, 7:54 a.m.
Comment on phenotypes: Variants also reported in Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301; Immunodeficiency 33 300636; Immunodeficiency, isolated 300584;
Incontinentia pigmenti 308300; Invasive pneumococcal disease, recurrent isolated, 2 300640
Created: 6 Sep 2016, 7:49 a.m.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- Expert list
- Radboud University Medical Center, Nijmegen
- UKGTN
- 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
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- 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
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- Skeletal dysplasia
- Primary lymphoedema
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Autoinflammatory disorders
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: IKBKG were changed from Ectodermal X-linked dysplasia, hypohidrotic, with immune deficiency 300291 to Ectodermal dysplasia and immunodeficiency 1, OMIM:300291
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for IKBKG were set to Ectodermal X-linked dysplasia, hypohidrotic, with immune deficiency 300291
Upload gene information
Sarah Leigh (Genomics England Curator)IKBKG was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene IKBKG were set to Ectodermal X-linked dysplasia, hypohidrotic, with immune deficiency 300291
Upload gene information
Sarah Leigh (Genomics England Curator)IKBKG was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN
clearsources
Sarah Leigh (Genomics England Curator)IKBKGAll sources for gene: IKBKG were removed
Created
Ellen McDonagh (Genomics England Curator)IKBKG was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)IKBKG was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list