Infantile enterocolitis & monogenic inflammatory bowel disease

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

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)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

History Filter Activity

14 Oct 2016, Gel status: 4

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.

12 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Sep 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for IKBKG were set to Ectodermal X-linked dysplasia, hypohidrotic, with immune deficiency 300291

6 Sep 2016, Gel status: 2

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

6 Sep 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene IKBKG were set to Ectodermal X-linked dysplasia, hypohidrotic, with immune deficiency 300291

6 Sep 2016, Gel status: 2

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

6 Sep 2016, Gel status: 0

clearsources

Sarah Leigh (Genomics England Curator)

IKBKGAll sources for gene: IKBKG were removed

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

IKBKG was created by ellenmcdonagh

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

IKBKG was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list