Rare genetic inflammatory skin disorders
Gene: IKBKGEnsemblGeneIds (GRCh38): ENSG00000269335
EnsemblGeneIds (GRCh37): ENSG00000073009
OMIM: 300248, Gene2Phenotype
IKBKG is in 19 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
IP is a single gene entry in test directory, and IKBKG provides difficulty in panel testing due to presence of pseudogene.Created: 12 Dec 2019, 3:08 p.m. | Last Modified: 12 Dec 2019, 3:08 p.m.
Panel Version: 0.21
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Incontinentia pigmenti
Publications
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.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: 31 Jan 2019, 2:02 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Amber
- London North GLH
- NHS GMS
- Phenotypes
-
- Incontinentia pigmenti, OMIM:308300
- OMIM
- 300248
- Clinvar variants
- Variants in IKBKG
- Penetrance
- None
- Publications
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: IKBKG were changed from Incontinentia pigmenti; Incontinentia pigmenti, Ectodermal dysplasia to Incontinentia pigmenti, OMIM:308300
Added New Source, Set Phenotypes, Set publications, Status Update
Catherine Snow (Genomics England)Source Expert Review Amber was added to IKBKG. Added phenotypes Incontinentia pigmenti for gene: IKBKG Publications for gene IKBKG were changed from to 10839543 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to IKBKG.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: IKBKG was added gene: IKBKG was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IKBKG were set to Incontinentia pigmenti, Ectodermal dysplasia