Immunological disorders_SuperPanel_PanelAppAustralia
Gene: IKBKGEnsemblGeneIds (GRCh38): ENSG00000269335
EnsemblGeneIds (GRCh37): ENSG00000073009
OMIM: 300248, Gene2Phenotype
IKBKG is in 19 panels
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Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- OMIM
- 300248
- Clinvar variants
- Variants in IKBKG
- Penetrance
- None
- Panels with this gene
-
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Rare genetic inflammatory skin disorders
- Intellectual disability
- Autoinflammatory disorders
- Retinal disorders
- Primary lymphoedema
- Ectodermal dysplasia
- COVID-19 research
- Mosaic skin disorders - deep sequencing
- Structural eye disease
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Skeletal dysplasia
- Epidermolysis bullosa and congenital skin fragility
- Early onset or syndromic epilepsy
- Ectodermal dysplasia without a known gene mutation
- Fetal anomalies
- DDG2P
- Incontinentia pigmenti
- Gastrointestinal epithelial barrier disorders
History Filter Activity
Created, Added New Source, Set mode of inheritance
Rebecca Foulger (Genomics England curator)gene: IKBKG was added gene: IKBKG was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Melbourne Genomics Health Alliance Immunology Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IKBKG was set to Unknown