Epidermolysis bullosa and congenital skin fragility
Gene: IKBKG
IKBKG (inhibitor of nuclear factor kappa B kinase subunit gamma)
EnsemblGeneIds (GRCh38): ENSG00000269335
EnsemblGeneIds (GRCh37): ENSG00000073009
OMIM: 300248, Gene2Phenotype
IKBKG is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000269335
EnsemblGeneIds (GRCh37): ENSG00000073009
OMIM: 300248, Gene2Phenotype
IKBKG is in 19 panels
1 review
Catherine Snow (Genomics England)
Following discussion with the Genomics England clinical team IKBKG can be classified as Green.Created: 4 Dec 2019, 10:31 a.m. | Last Modified: 4 Dec 2019, 10:31 a.m.
Panel Version: 0.24
This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:IKBKG; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.15
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Phenotypes
-
- Incontinentia pigmenti, OMIM:308300
- Tags
- OMIM
- 300248
- Clinvar variants
- Variants in IKBKG
- Penetrance
- None
- Panels with this gene
-
- Autoinflammatory disorders
- Primary lymphoedema
- Ectodermal dysplasia
- COVID-19 research
- Structural eye disease
- Skeletal dysplasia
- Early onset or syndromic epilepsy
- Retinal disorders
- Epidermolysis bullosa and congenital skin fragility
- Intellectual disability
- Ectodermal dysplasia without a known gene mutation
- Mosaic skin disorders - deep sequencing
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Incontinentia pigmenti
- Fetal anomalies
- DDG2P
- Gastrointestinal epithelial barrier disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Rare genetic inflammatory skin disorders
History Filter Activity
17 Mar 2026, Gel status: 3
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag currently-ngs-unreportable tag was added to gene: IKBKG.
24 Mar 2021, Gel status: 3
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: IKBKG were changed from to Incontinentia pigmenti, OMIM:308300
4 Dec 2019, Gel status: 3
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: ikbkg has been classified as Green List (High Evidence).
2 Sep 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance
Catherine Snow (Genomics England)gene: IKBKG was added gene: IKBKG was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females