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Ectodermal Dysplasia

Gene: NFKBIA

Green List (high evidence)
NFKBIA (NFKB inhibitor alpha)
EnsemblGeneIds (GRCh38): ENSG00000100906
EnsemblGeneIds (GRCh37): ENSG00000100906
OMIM: 164008, Gene2Phenotype
NFKBIA is in 5 panels

2 reviews

Danielle Ariti (University of Melbourne)

Green List (high evidence)

12 heterozygous variants were identified in 15 unrelated individuals (de novo in 14 individuals and somatic mosaicism in 1 individual).

Functional studies & two mouse models; demonstrate reported NFKBIA gain-of-function variants resulting in impaired NFKB1 activity.

The majority of individuals displayed recurrent infections, chronic diarrhoea, agammaglobulinaemia, increased IgM, and defects in teeth (hair, nail, sweat glands).
Created: 5 Aug 2021, 6:15 a.m. | Last Modified: 5 Aug 2021, 6:15 a.m.
Panel Version: 0.8638

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ectodermal dysplasia and immunodeficiency 2 MIM# 612132; Ectodermal dysplasia; TCR/ BCR activation impaired; low memory and isotype switched B cells; decreased IgG and IgA; elevated IgM; poor specific antibody responses; diarrhoea; agammaglobulinaemia; ectodermal dysplasia; recurrent respiratory and gastrointestinal infections; colitis; variable defects of skin, hair and teeth

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: 5 Aug 2021, 6:15 a.m.
Last Modified: 5 Aug 2021, 6:15 a.m.
Panel version: Imported from Mendeliome panel version 0.8638

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Ectodermal dysplasia is a feature of the condition. >3 cases reported. Gain-of-function missense variants and nonsense variants upstream from S32 associated with the reinitiation of translation downstream.
Sources: Expert list
Created: 11 Mar 2020, 9:29 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ectodermal dysplasia and immunodeficiency 2 MIM#612132

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: 11 Mar 2020, 9:29 a.m.

Panel version: 0.14

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ectodermal dysplasia and immunodeficiency 2 MIM#612132
OMIM
164008
Clinvar variants
Variants in NFKBIA
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

11 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

11 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

11 Mar 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: NFKBIA was added gene: NFKBIA was added to Ectodermal Dysplasia_RMH. Sources: Expert list Mode of inheritance for gene: NFKBIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NFKBIA were set to 28597146 Phenotypes for gene: NFKBIA were set to Ectodermal dysplasia and immunodeficiency 2 MIM#612132 Mode of pathogenicity for gene: NFKBIA was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: NFKBIA was set to GREEN