Incontinentia pigmenti
Gene: IKBKGEnsemblGeneIds (GRCh38): ENSG00000269335
EnsemblGeneIds (GRCh37): ENSG00000073009
OMIM: 300248, Gene2Phenotype
IKBKG is in 19 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotype in OMIM (MIM #308300) and the OMIM record was last accessed on 20 December 2025.Created: 20 Dec 2025, 6:18 p.m. | Last Modified: 20 Dec 2025, 6:18 p.m.
Panel Version: 1.3
IKBKG has been added to the panel for R239 Incontinentia pigmenti with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 1:39 p.m. | Last Modified: 30 Jun 2023, 1:39 p.m.
Panel Version: 0.1
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Incontinentia pigmenti, OMIM:308300
- incontinentia pigmenti, MONDO:0010631
- OMIM
- 300248
- Clinvar variants
- Variants in IKBKG
- Penetrance
- None
- Panels with this gene
-
- Rare genetic inflammatory skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- 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
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- Skeletal dysplasia
- Primary lymphoedema
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Autoinflammatory disorders
History Filter Activity
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: IKBKG were changed from Incontinentia pigmenti, OMIM:308300 to Incontinentia pigmenti, OMIM:308300; incontinentia pigmenti, MONDO:0010631
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: IKBKG were changed from to Incontinentia pigmenti, OMIM:308300
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: IKBKG was added gene: IKBKG was added to Incontinentia pigmenti. Sources: Expert Review Green,NHS GMS 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)