Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: IKBKGComment on list classification: Promoted from amber to green due to expert review and curated evidence.Created: 12 Oct 2016, 9:07 a.m.
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.
Phenotypes for gene: IKBKG were changed from Ectodermal X-linked dysplasia, hypohidrotic, with immune deficiency 300291 to Ectodermal dysplasia and immunodeficiency 1, OMIM:300291
14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
This gene has been classified as Green List (High Evidence).
Phenotypes for IKBKG were set to Ectodermal X-linked dysplasia, hypohidrotic, with immune deficiency 300291
IKBKG was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for gene IKBKG were set to Ectodermal X-linked dysplasia, hypohidrotic, with immune deficiency 300291
IKBKG was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN
IKBKGAll sources for gene: IKBKG were removed
IKBKG was created by ellenmcdonagh
IKBKG was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list