Gastrointestinal epithelial barrier disorders
Gene: IKBKGEnsemblGeneIds (GRCh38): ENSG00000269335
EnsemblGeneIds (GRCh37): ENSG00000073009
OMIM: 300248, Gene2Phenotype
IKBKG is in 19 panels
4 reviews
Olivia Niblock (Genomics England Curator)
Comment on list classification: From literature research, it appears that variants in this gene appear to be involved in immunological disorders rather than clearly gastrointestinal disorders. However, given the expert green review, I have promoted this gene to amber.Created: 26 Jul 2018, 10:30 a.m.
Comment on list classification: From literature research, it appears that variants in this gene appear to be involved in immunological disorders rather than clearly gastrointestinal disorders. However, given the expert green review, I have promoted this gene to amber.Created: 26 Jul 2018, 10:30 a.m.
Sarah Leigh (Genomics England Curator)
Mode of inheritance
Unknown
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)
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Amber
- Expert list
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
- 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 Immunodeficiency 33, 300636; Immunodeficiency, isolated, 300584 to Ectodermal dysplasia and immunodeficiency 1, OMIM:300291
Entity classified by Genomics England curator
Olivia Niblock (Genomics England Curator)Gene: ikbkg has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Olivia Niblock (Genomics England Curator)Gene: ikbkg has been classified as Amber List (Moderate Evidence).
Panel promoted to version 1.0
Olivia Niblock (Genomics England Curator)Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018
Added New Source
Olivia Niblock (Genomics England Curator)Expert list was added to IKBKG. Panel: Gastrointestinal epithelial barrier disorders
Added New Source, Set penetrance
Olivia Niblock (Genomics England Curator)Radboud University Medical Center, Nijmegen was added to IKBKG. Panel: Gastrointestinal epithelial barrier disorders Phenotypes for gene IKBKG were set to Immunodeficiency 33, 300636, Immunodeficiency, isolated, 300584
Created
Sarah Leigh (Genomics England Curator)IKBKG was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)IKBKG was added to Gastrointestinal epithelial barrier disorderspanel. Sources: Eligibility statement prior genetic testing