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Combined Immunodeficiency
Gene: IKBKB

IKBKB (inhibitor of nuclear factor kappa B kinase subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000104365
EnsemblGeneIds (GRCh37): ENSG00000104365
OMIM: 603258, Gene2Phenotype
IKBKB is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

GoF for mono-allelic disease, LoF for bi-allelic.
Created: 4 Apr 2020, 3:39 a.m. | Last Modified: 4 Apr 2020, 3:39 a.m.

Panel Version: 0.90

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 15A, autosomal dominant, MIM# 618204; Immunodeficiency 15B, autosomal recessive, MIM# 615592

Publications

Mode of pathogenicity
Other

Created: 4 Apr 2020, 3:39 a.m.
Last Modified: 4 Apr 2020, 3:39 a.m.
Panel version: 0.90

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Immunodeficiency 15A, autosomal dominant, MIM# 618204
Immunodeficiency 15B, autosomal recessive, MIM# 615592

OMIM

Clinvar variants

Variants in IKBKB

Penetrance

None

Publications

Mode of Pathogenicity

Other

Panels with this gene

History Filter Activity

4 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IKBKB were changed from Immunodeficiency 15A, autosomal dominant, MIM# 618204; Immunodeficiency 15B, autosomal recessive, MIM# 615592 to Immunodeficiency 15A, autosomal dominant, MIM# 618204; Immunodeficiency 15B, autosomal recessive, MIM# 615592

4 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ikbkb has been classified as Green List (High Evidence).

4 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IKBKB were changed from to Immunodeficiency 15A, autosomal dominant, MIM# 618204; Immunodeficiency 15B, autosomal recessive, MIM# 615592

4 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IKBKB were set to

4 Apr 2020, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: IKBKB was changed from to Other

4 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: IKBKB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IKBKB was added gene: IKBKB was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: IKBKB was set to Unknown