Common Variable Immunodeficiency
Gene: NFKB1EnsemblGeneIds (GRCh38): ENSG00000109320
EnsemblGeneIds (GRCh37): ENSG00000109320
OMIM: 164011, Gene2Phenotype
NFKB1 is in 5 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well-established gene-disease association; multiple mouse models.
PMID: 32278790 (2020): More than 56 NFKB1 variants in 157 individuals (68 unrelated families) have been reported as pathogenic with primary immunodeficiency features.
Identified variants consist of missense, nonsense, frameshift, and splice site.
Typical phenotype includes hypogammaglobulinaemia, reduced switched memory B cells, and recurrent respiratory and gastrointestinal infections.Created: 9 Aug 2021, 1:24 a.m. | Last Modified: 9 Aug 2021, 1:24 a.m.
Panel Version: 0.117
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Immunodeficiency, common variable, 12 MIM# 616576; Normal-low IgG, IgA, IgM; low-normal B cells; low switched memory B cells; hypogammaglobulinaemia; recurrent respiratory and gastrointestinal infections; Chronic obstructive pulmonary disease COPD; EBV proliferation; autoimmunity; alopecia
Publications
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).Created: 21 Jul 2020, 2:35 a.m. | Last Modified: 21 Jul 2020, 2:35 a.m.
Panel Version: 0.53
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Immunodeficiency, common variable, 12 MIM# 616576
- Normal-low IgG, IgA, IgM
- low-normal B cells
- low switched memory B cells
- hypogammaglobulinaemia
- recurrent respiratory and gastrointestinal infections
- Chronic obstructive pulmonary disease COPD
- EBV proliferation
- autoimmunity
- alopecia
- OMIM
- 164011
- Clinvar variants
- Variants in NFKB1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nfkb1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: NFKB1 were changed from Immunodeficiency, common variable, 12 MIM#616576 to Immunodeficiency, common variable, 12 MIM# 616576; Normal-low IgG, IgA, IgM; low-normal B cells; low switched memory B cells; hypogammaglobulinaemia; recurrent respiratory and gastrointestinal infections; Chronic obstructive pulmonary disease COPD; EBV proliferation; autoimmunity; alopecia
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: NFKB1 were set to
Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: NFKB1 were changed from to Immunodeficiency, common variable, 12 MIM#616576
Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Mode of inheritance for gene: NFKB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: nfkb1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: NFKB1 was added gene: NFKB1 was added to Common Variable Immunodeficiency_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: NFKB1 was set to Unknown