Ectodermal Dysplasia
Gene: IKBKGEnsemblGeneIds (GRCh38): ENSG00000269335
EnsemblGeneIds (GRCh37): ENSG00000073009
OMIM: 300248, Gene2Phenotype
IKBKG is in 24 panels
2 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
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
- 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
- Expert Review Green
- Expert list
- Victorian Clinical Genetics Services
- Phenotypes
-
- Ectodermal dysplasia and immunodeficiency 1 MIM3300291
- Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency MIM#300301
- Incontinentia pigmenti MIM#308300
- 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
Bryony Thompson (Royal Melbourne Hospital)Gene: ikbkg has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ikbkg has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: IKBKG was added gene: IKBKG was added to Ectodermal Dysplasia_RMH. Sources: Expert list 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) Publications for gene: IKBKG were set to 10839543; 30422821 Phenotypes for gene: IKBKG were set to Ectodermal dysplasia and immunodeficiency 1 MIM3300291; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency MIM#300301; Incontinentia pigmenti MIM#308300 Review for gene: IKBKG was set to GREEN