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Immunological disorders_SuperPanel_PanelAppAustralia

Gene: IKBKB

Green List (high evidence)
IKBKB (inhibitor of nuclear factor kappa B kinase subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000104365
EnsemblGeneIds (GRCh37): ENSG00000104365
OMIM: 603258, Gene2Phenotype
IKBKB is in 2 panels

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Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
Phenotypes
  • Immunodeficiency 15A, autosomal dominant, MIM#618204
  • Immunodeficiency 15B, autosomal recessive, MIM#615592
OMIM
603258
Clinvar variants
Variants in IKBKB
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

7 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

gene: IKBKB was added gene: IKBKB 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: IKBKB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: IKBKB were set to 25216719; 24369075; 30337470 Phenotypes for gene: IKBKB were set to Immunodeficiency 15A, autosomal dominant, MIM#618204; Immunodeficiency 15B, autosomal recessive, MIM#615592 Mode of pathogenicity for gene: IKBKB was set to Other