Mosaic skin disorders - deep sequencing
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 following NHS Genomic Medicine Service approval.Created: 6 Dec 2024, 11:18 a.m. | Last Modified: 6 Dec 2024, 11:18 a.m.
Panel Version: 2.49
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Incontinentia pigmenti (IP) is a X-linked dominant disorder associated with variants in the IKBKG gene. IP is mostly lethal in males in utero, and only very rare surviving male cases have somatic mosaicism. Phenotypically, cutaneous lesions manifest in Blaschkoid distribution.
Overall 'R327 Mosaic skin disorders - deep sequencing' represents a plausible route for referral and diagnosis for these cases and therefore a Green rating on this panel would be appropriate.Created: 2 Apr 2024, 2:13 p.m. | Last Modified: 2 Apr 2024, 2:21 p.m.
Panel Version: 2.44
Zornitza Stark (Australian Genomics)
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: OtherCreated: 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
-
- NHS GMS
- Expert Review Green
- Other
- Phenotypes
-
- Incontinentia pigmenti, OMIM:308300
- Tags
- 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
- 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
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_24_promote_green was removed from gene: IKBKG.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to IKBKG. Source NHS GMS was added to IKBKG. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: ikbkg has been classified as Amber List (Moderate Evidence).
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag somatic tag was added to gene: IKBKG. Tag Q2_24_promote_green tag was added to gene: IKBKG.
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: IKBKG were set to
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: IKBKG were changed from Ectodermal dysplasia and immunodeficiency 1, 300291; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301; Incontinentia pigmenti, 308300 to Incontinentia pigmenti, OMIM:308300
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: ikbkg has been classified as Amber List (Moderate Evidence).
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