Ectodermal dysplasia

Gene: NFKBIA

Green List (high evidence)

NFKBIA (NFKB inhibitor alpha)
EnsemblGeneIds (GRCh38): ENSG00000100906
EnsemblGeneIds (GRCh37): ENSG00000100906
OMIM: 164008, Gene2Phenotype
NFKBIA is in 6 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least three variants reported, each with functional evidence (PMIDs 15337789; 17931563; 18412279)
Created: 15 Aug 2016, 7:11 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Evidence for Ectodermal Dysplasia, Anhidrotic, with T-cell Immunodeficiency, however unsure whether this should be included for this panel.
Created: 25 Jul 2016, 8:53 a.m.
Please note the suggested mode of inheritance under John McGrath's evaluation was automatically transferred from the original sources and was not provided in his review.
Created: 19 Nov 2015, 3:17 p.m.

John McGrath (King's College London)

Green List (high evidence)

Okay to include for anhidrotic ED with immunodeficiency
Created: 19 Nov 2015, 3:06 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
anhidrotic Ectodermal dysplasia with immunodeficiency

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency 612132
OMIM
164008
Clinvar variants
Variants in NFKBIA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: NFKBIA was added gene: NFKBIA was added to Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: NFKBIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NFKBIA were set to 17931563; 23864385; 18412279; 15337789; 23239958 Phenotypes for gene: NFKBIA were set to Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency 612132