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  2. Newborns additional phenotypes panel 1
  3. IKBKB
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Newborns additional phenotypes panel 1

Gene: IKBKB

Amber List (moderate 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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is gain-of-function (GOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.29
PMID:30337470 (2 families, same variant), PMID: 36378426 (1 patient), PMID: 32554083 1 patient
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.26
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.29

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Immunodeficiency 15A
OMIM
603258
Clinvar variants
Variants in IKBKB
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to IKBKB. Added phenotypes Immunodeficiency 15A for gene: IKBKB Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 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 15A for gene: IKBKB Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency 15A for gene: IKBKB

15 May 2023, Gel status: 2

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

Mafalda Gomes (Genomics England Curator)

gene: IKBKB was added gene: IKBKB was added to Newborns additional phenotypes panel. Sources: Expert Review Amber Mode of inheritance for gene: IKBKB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: IKBKB were set to Immunodeficiency 15A Mode of pathogenicity for gene: IKBKB was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments