Genes in panel
Regions in panel
Prev Next

Mendeliome

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 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants: more than 3 families reported.

Mono-allelic variants: two individuals with de novo missense.

Experimental data.
Created: 17 Mar 2022, 11:16 p.m. | Last Modified: 17 Mar 2022, 11:16 p.m.
Panel Version: 0.11532

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 15A, MIM# 618204; Immunodeficiency 15B, MIM# 615592

Publications

Details

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

History Filter Activity

17 Mar 2022, 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).

17 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IKBKB were set to

17 Mar 2022, 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 Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IKBKB was set to Unknown