Early onset or syndromic epilepsy
Gene: IKBKGEnsemblGeneIds (GRCh38): ENSG00000269335
EnsemblGeneIds (GRCh37): ENSG00000073009
OMIM: 300248, Gene2Phenotype
IKBKG is in 19 panels
5 reviews
Helen Lord (Oxford Medical Genetics Laboratories)
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Rebecca Foulger (Genomics England curator)
Comment on mode of inheritance: Kept Mode of Inheritance as XLD based on Post-Webex review by Helen Lord.Created: 7 Sep 2019, 10:58 a.m. | Last Modified: 7 Sep 2019, 10:58 a.m.
Panel Version: 1.279
Mode of inheritance collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene is part of a subset where the mode of inheritance was re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy. No rating was included in the review, so I have uploaded a Green rating to match the original West Midlands, Oxford and Wessex GLH rating.Created: 5 Sep 2019, 2:26 p.m. | Last Modified: 5 Sep 2019, 2:26 p.m.
Panel Version: 1.262
Comment on mode of inheritance: OMIM lists XLD inheritance for Incontinentia pigmenti (MIM:308300).Created: 13 Aug 2019, 1:34 p.m. | Last Modified: 13 Aug 2019, 1:34 p.m.
Panel Version: 1.213
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Tracy Lester (Genetics laboratory, Oxford UK)
Incontinentia pigmenti is associated with seizures (About 30% of people with IP have neurologic manifestations, including seizures, motor problems, microcephaly, learning difficulties, and ataxia). Majority of mutations are attributed to the genomic deletion of IKBKG from exon 4-10.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Incontinentia pigmenti, 308300; Immunodeficiency , 300636
Publications
Ivone Leong (Genomics England Curator)
Comment on list classification: Promoted from amber to green. Incontinentia pigmenti is confirmed by OMIM and Gene2Phenotype. There are >3 unrelated families with a variant in this gene diagnosed with incontinentia pigmenti who have seizures (PMID: 30151858,28794079,24339369). Neurological symptoms (including seizures) affect ~30% of patients with incontinentia pigmenti (PMID:28870493).Created: 19 Nov 2018, 10:55 a.m.
Zornitza Stark (Australian Genomics)
XLD, seizures are a feature of this multi-system disorder.Created: 16 Aug 2018, 12:51 a.m.
Mode of inheritance
Other
Phenotypes
Incontinentia pigmenti, MIM#308300
Variants in this GENE are reported as part of current diagnostic practice
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 Green
- Wessex and West Midlands GLH
- NHS GMS
- Victorian Clinical Genetics Services
- 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, 308300 to Incontinentia pigmenti, OMIM:308300
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: ikbkg has been classified as Green List (High Evidence).
Set publications
Rebecca Foulger (Genomics England curator)Publications for gene: IKBKG were set to 30151858; 28794079; 24339369
Set mode of inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for gene: IKBKG was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Set mode of inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for gene: IKBKG was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added New Source
Rebecca Foulger (Genomics England curator)Source Wessex and West Midlands GLH was added to IKBKG.
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to IKBKG.
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)Zornitza Stark: XLD, seizures are a feature of
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: ikbkg has been classified as Green List (High Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: IKBKG were set to
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: ikbkg has been classified as Green List (High Evidence).
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: IKBKG was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: IKBKG were changed from to Incontinentia pigmenti, 308300
Added New Source
Sarah Leigh (Genomics England Curator)Expert Review Amber was added to IKBKG. Panel: Genetic Epilepsy Syndromes
Added New Source
Sarah Leigh (Genomics England Curator)IKBKG was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
Created
Sarah Leigh (Genomics England Curator)IKBKG was created by Sarah Leigh