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Ectodermal Dysplasia

Gene: NFKB2

Green List (high evidence)
NFKB2 (nuclear factor kappa B subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000077150
EnsemblGeneIds (GRCh37): ENSG00000077150
OMIM: 164012, Gene2Phenotype
NFKB2 is in 6 panels

2 reviews

Danielle Ariti (University of Melbourne)

Green List (high evidence)

12 individuals from 8 unrelated families with immunodeficiency reported NFKB2 variants; two mouse models.

Variants reported were heterozygous truncating variants (missense, nonsense, deletions); 2x were de novo.

All patients had childhood-onset recurrent infections associated with hypogammaglobulinaemia and decreased numbers of B-cell memory switched lymphocytes.
Created: 5 Aug 2021, 6:12 a.m. | Last Modified: 5 Aug 2021, 6:12 a.m.
Panel Version: 0.8638

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Immunodeficiency, common variable, 10 MIM# 615577; Low serum IgG, IgA, IgM; low B cell numbers; low switched memory B cells; Recurrent sinopulmonary infections, Alopecia; endocrinopathies; ACTH deficiency

Publications

Created: 5 Aug 2021, 6:12 a.m.
Last Modified: 5 Aug 2021, 6:12 a.m.
Panel version: Imported from Mendeliome panel version 0.8638

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Heterozygous C-terminal variants (both stopgain and missense) with gain-of-function effects cause early onset common variable immunodeficiency (CVID) with ectodermal dysplasia, while loss of function cause CVID without ectodermal manifestations. >3 cases reported with ectodermal dysplasia as a feature of the condition.
Sources: NHS GMS
Created: 17 May 2021, 6:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Immunodeficiency, common variable, 10 MIM#615577

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 17 May 2021, 6:44 a.m.

Panel version: 0.47

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Immunodeficiency, common variable, 10 MIM#615577
OMIM
164012
Clinvar variants
Variants in NFKB2
Penetrance
None
Publications
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

17 May 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: nfkb2 has been classified as Green List (High Evidence).

17 May 2021, Gel status: 3

Set mode of pathogenicity

Bryony Thompson (Royal Melbourne Hospital)

Mode of pathogenicity for gene: NFKB2 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

17 May 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: nfkb2 has been classified as Green List (High Evidence).

17 May 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: NFKB2 was added gene: NFKB2 was added to Ectodermal Dysplasia. Sources: NHS GMS Mode of inheritance for gene: NFKB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NFKB2 were set to 31417880; 28778864; 27749582 Phenotypes for gene: NFKB2 were set to Immunodeficiency, common variable, 10 MIM#615577 Review for gene: NFKB2 was set to GREEN