This Panel is marked as Internal
Undiagnosed neurocutaneous disorders
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
Rebecca Foulger (Genomics England curator)
Comment on mode of inheritance: XLD mode of inheritance supported by OMIM.Created: 8 May 2017, 2:09 p.m.
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
-
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Incontinentia pigmenti, type II, 308300
- Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291
- Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301
- Immunodeficiency, isolated, 300584
- {Atypical mycobacteriosis, familial}, 300636
- Invasive pneumococcal disease, recurrent isolated, 2, 300640
- Incontinentia Pigmenti
- OMIM
- 300248
- Clinvar variants
- Variants in IKBKG
- Penetrance
- Complete
- Panels with this gene
-
- Epidermolysis bullosa and congenital skin fragility
- Retinal disorders
- Skeletal dysplasia
- Early onset or syndromic epilepsy
- COVID-19 research
- Primary lymphoedema
- Mosaic skin disorders - Deep sequencing
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- Structural eye disease
- Ectodermal dysplasia without a known gene mutation
- Ectodermal dysplasia
- DDG2P
- Gastrointestinal epithelial barrier disorders
- Autoinflammatory disorders
- Incontinentia pigmenti
- Rare genetic inflammatory skin disorders
- Intellectual disability
- Infantile enterocolitis & monogenic inflammatory bowel disease
History Filter Activity
8 May 2017, Gel status: 2
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for IKBKG was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
10 Dec 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)IKBKG was added to Undiagnosed neurocutaneous disorderspanel. Source: UKGTN
10 Dec 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)IKBKG was added to Undiagnosed neurocutaneous disorderspanel. Sources: Radboud University Medical Center, Nijmegen
10 Dec 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)IKBKG was created by ellenmcdonagh