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  2. Ectodermal dysplasia
  3. NFKB2
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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 5 panels

2 reviews

John McGrath (King's College London)

Green List (high evidence)

Phenotypes
Hypohidrotic ectodermal dysplasia, with immune deficiency, osteopetrosis and lymphoedema

Created: 5 Nov 2017, 2:37 a.m.

Panel version: Imported from Ectodermal dysplasia without a known gene mutation panel version 0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least six variants reported
Created: 10 Aug 2016, 12:09 p.m.
Created: 10 Aug 2016, 12:09 p.m.

Panel version: Imported from Ectodermal dysplasia without a known gene mutation panel version 0.126

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Immunodeficiency, common variable, 10 615577
OMIM
164012
Clinvar variants
Variants in NFKB2
Penetrance
None
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: NFKB2 was added gene: NFKB2 was added to Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: NFKB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NFKB2 were set to Immunodeficiency, common variable, 10 615577