Meiges disease
Gene: IKBKGEnsemblGeneIds (GRCh38): ENSG00000269335
EnsemblGeneIds (GRCh37): ENSG00000073009
OMIM: 300248, Gene2Phenotype
IKBKG is in 19 panels
2 reviews
Pia Ostergaard (St George's)
Richard Scott (Genomics England Curator)
Comment on list classification: Lymphedema seen in some males with hypomorphic mutationsCreated: 29 Jul 2016, 10:09 p.m.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Incontinentia pigmenti, type II, 308300
- Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291
- Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301
- Immunodeficiency, isolated, 300584
- {Atypical mycobacterio
- Ectodermal dysplasia, anhidrotic with immunodeficiency, osteopetrosis and lymphedema
- Ectodermal dysplasia, hypohidrotic, with immune deficiency
- Immunodeficiency 33 300636
- Incontinentia pigmenti 308300
- OMIM
- 300248
- Clinvar variants
- Variants in IKBKG
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Autoinflammatory disorders
- Primary lymphoedema
- Ectodermal dysplasia
- COVID-19 research
- Structural eye disease
- Skeletal dysplasia
- Retinal disorders
- Epidermolysis bullosa and congenital skin fragility
- Intellectual disability
- Early onset or syndromic epilepsy
- Ectodermal dysplasia without a known gene mutation
- Mosaic skin disorders - deep sequencing
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Incontinentia pigmenti
- Fetal anomalies
- DDG2P
- Gastrointestinal epithelial barrier disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Rare genetic inflammatory skin disorders
History Filter Activity
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Model of inheritance for gene IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
panel promoted to version 1
Richard Scott (Genomics England Curator)Ready for version 1
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Richard Scott (Genomics England Curator)Publications for IKBKG were set to 11242109
Set publications
Richard Scott (Genomics England Curator)Publications for IKBKG were set to 11242109
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model 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)
Added New Source
Ellen McDonagh (Genomics England Curator)IKBKG was added to Meiges diseasepanel. Source: UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)IKBKG was added to Meiges diseasepanel. Sources: Radboud University Medical Center, Nijmegen