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This Panel is marked as Internal

Newborns main panel
Gene: IKBKB

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

clinical validity - 1 path variant in 16 case - PMID: 30391351. 4 families same variant - PMID: 24369075. 1 case- PMID: 24679846. 2 families same variant - PMID: 25139357. 1 case - PMID: 33658989. 1 family - PMID: 32117824. 1 case - PMID: 25216719. avoid bcg
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Immunodeficiency 15B

OMIM

Clinvar variants

Variants in IKBKB

Penetrance

None

Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency 15B for gene: IKBKB

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency 15B for gene: IKBKB

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency 15B for gene: IKBKB

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to IKBKB. Added phenotypes Immunodeficiency 15B for gene: IKBKB Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to IKBKB. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency 15B for gene: IKBKB

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: IKBKB was added gene: IKBKB was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: IKBKB was set to BIALLELIC, autosomal or pseudoautosomal