Mosaic skin disorders - deep sequencing

Gene: IKBKG

Amber List (moderate evidence)

IKBKG (inhibitor of nuclear factor kappa B kinase subunit gamma)
EnsemblGeneIds (GRCh38): ENSG00000269335
EnsemblGeneIds (GRCh37): ENSG00000073009
OMIM: 300248, Gene2Phenotype
IKBKG is in 18 panels

2 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Classically XLD disorder which is lethal in males, but somatic mosaicism in males also reported.
Created: 18 Feb 2021, 8:11 a.m. | Last Modified: 18 Feb 2021, 8:11 a.m.
Panel Version: 1.5

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Incontinentia pigmenti, 308300

Publications

Rebecca Foulger (Genomics England curator)

Added IKBKG (NEMO) to the 'Mosaic skin disorders- deep sequencing' panel as suggested by Anna de Burca and Ellen Thomas, based on known mosaic skin phenotypes. Added IKBKG as an Amber gene awaiting clinical review at the first skin Webex call.
Sources: Other
Created: 17 Apr 2019, 4:14 p.m.

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
Ectodermal dysplasia and immunodeficiency 1, 300291; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301; Incontinentia pigmenti, 308300

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 Amber
  • Other
Phenotypes
  • Ectodermal dysplasia and immunodeficiency 1, 300291
  • Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301
  • Incontinentia pigmenti, 308300
OMIM
300248
Clinvar variants
Variants in IKBKG
Penetrance
None
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: ikbkg has been classified as Amber List (Moderate Evidence).

17 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: IKBKG was added gene: IKBKG was added to Mosaic skin disorders - deep sequencing. 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) Phenotypes for gene: IKBKG were set to Ectodermal dysplasia and immunodeficiency 1, 300291; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301; Incontinentia pigmenti, 308300