Autoinflammatory disorders
Gene: IKBKGEnsemblGeneIds (GRCh38): ENSG00000269335
EnsemblGeneIds (GRCh37): ENSG00000073009
OMIM: 300248, Gene2Phenotype
IKBKG is in 19 panels
4 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.Created: 10 Dec 2025, 2:17 p.m. | Last Modified: 10 Dec 2025, 2:17 p.m.
Panel Version: 2.34
Arina Puzriakova (Genomics England Curator)
Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.
Variants in the IKBKG gene (also known as NEMO) can be linked to a autoinflammatory disorder characterised by the onset of systemic autoinflammation in the first months of life. Clinical manifestations are variable but include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. At least 9 unrelated cases have been reported, including two females (PMID: 31874111; 35120036; 35289316; 39264518).Created: 16 Jun 2025, 10:15 a.m. | Last Modified: 16 Jun 2025, 10:15 a.m.
Panel Version: 2.16
Dmitrijs Rots (Children's Clinical University Hospital)
exon 5 skipping of IKBKG (NEMO) result in autoinflammatory disorder. Already in OMIM: 301081.
LoF variants causes X-linked incontinentia pigmenti.
Sources: Other.Created: 16 Oct 2024, 9:49 a.m. | Last Modified: 16 Oct 2024, 9:50 a.m.
Panel Version: 2.3
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Autoinflammatory disease, systemic, X-linked
Publications
- PMID: 35289316
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
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
- NHS GMS
- Phenotypes
-
- Autoinflammatory disease, systemic, X-linked, OMIM:301081
- OMIM
- 300248
- Clinvar variants
- Variants in IKBKG
- Penetrance
- unknown
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Rare genetic inflammatory skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- 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
- 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
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_25_ promote_green was removed from gene: IKBKG. Tag Q2_25_ NHS_review was removed from gene: IKBKG.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source NHS GMS was added to IKBKG. Source Expert Review Green was added to IKBKG. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: IKBKG were set to PMID: 35289316
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: ikbkg has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: IKBKG were changed from Autoinflammatory disease, systemic, X-linked to Autoinflammatory disease, systemic, X-linked, OMIM:301081
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_25_ promote_green tag was added to gene: IKBKG. Tag Q2_25_ NHS_review tag was added to gene: IKBKG.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity
Dmitrijs Rots (Children's Clinical University Hospital)gene: IKBKG was added gene: IKBKG was added to Autoinflammatory disorders. Sources: Other Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: IKBKG were set to PMID: 35289316 Phenotypes for gene: IKBKG were set to Autoinflammatory disease, systemic, X-linked Penetrance for gene: IKBKG were set to unknown Mode of pathogenicity for gene: IKBKG was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: IKBKG was set to GREEN