Epidermolysis bullosa
Gene: IKBKGEnsemblGeneIds (GRCh38): ENSG00000269335
EnsemblGeneIds (GRCh37): ENSG00000073009
OMIM: 300248, Gene2Phenotype
IKBKG is in 24 panels
3 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease associations. MIM#300291 and 300636 represent part of a spectrum.
Note structural variants are common, as are mapping issues, so variant detection by NGS may be challenging.Created: 17 Mar 2022, 11:32 p.m. | Last Modified: 17 Mar 2022, 11:32 p.m.
Panel Version: 0.11535
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, MIM# 300291; Immunodeficiency 33 , MIM#300636; Incontinentia pigmenti, MIM# 308300
Paul De Fazio (Victorian Clinical Genetics Services)
Well-established association with Incontinentia pigmenti, which is a multi-stage disease, stage 1 of which has blister-like bullous eruptions that are linear on the extremities and/or circumferential on the trunk, which usually disappear by 18 months (GeneReviews - https://www.ncbi.nlm.nih.gov/books/NBK1472/) Most pathogenic variants are gene rearrangements or multi-exon deletions.
X-linked dominant, with presumed male lethality (although there are reports of mosaic and XXY affected males).
This gene is also associated with Ectodermal dysplasia and immunodeficiency but these associations do not fit this panel.
Sources: LiteratureCreated: 10 Aug 2020, 5:51 a.m.
Mode of inheritance
Other
Phenotypes
Incontinentia pigmenti (MIM#308300)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Bryony Thompson (Royal Melbourne Hospital)
Ectodermal dysplasia is a feature of the condition. >3 cases reported.
Sources: Expert listCreated: 11 Mar 2020, 8:32 a.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 MIM3300291; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency MIM#300301; Incontinentia pigmenti MIM#308300
Publications
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Green
- Expert Review Green
- Expert Review Green
- Expert list
- Victorian Clinical Genetics Services
- Phenotypes
-
- Incontinentia pigmenti (MIM#308300)
- Tags
- OMIM
- 300248
- Clinvar variants
- Variants in IKBKG
- Penetrance
- None
- Publications
- Panels with this gene
-
- Ectodermal Dysplasia
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Prepair 1000+
- Lymphoedema_syndromic
- Inflammatory bowel disease
- BabyScreen+ newborn screening
- Autoinflammatory Disorders
- Vasculitis
- Osteopetrosis
- Lymphoedema_nonsyndromic
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Macrocephaly_Megalencephaly
- Anophthalmia_Microphthalmia_Coloboma
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Mosaic skin disorders
- Mendeliome
- Oligodontia
- Cataract
- Syndromic Retinopathy
- Epidermolysis bullosa
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ikbkg has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ikbkg has been classified as Green List (High Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag SV/CNV tag was added to gene: IKBKG.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Paul De Fazio (Victorian Clinical Genetics Services)gene: IKBKG was added gene: IKBKG was added to Epidermolysis bullosa. Sources: Literature Mode of inheritance for gene: IKBKG was set to Other Publications for gene: IKBKG were set to 12588226; 30151858; 10839543; 11673821 Phenotypes for gene: IKBKG were set to Incontinentia pigmenti (MIM#308300) Review for gene: IKBKG was set to GREEN gene: IKBKG was marked as current diagnostic