Ectodermal dysplasia without a known gene mutation

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 7 panels

2 reviews

John McGrath (King's College London)

Green List (high evidence)

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

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Immunodeficiency, common variable, 10 615577
OMIM
164012
Clinvar variants
Variants in NFKB2
Penetrance
Complete
Panels with this gene

History Filter Activity

10 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 10th August 2016

10 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Aug 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

NFKB2 was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Radboud University Medical Center, Nijmegen

10 Aug 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for NFKB2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

10 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for NFKB2 were set to Immunodeficiency, common variable, 10 615577

10 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Nov 2015, Gel status: 0

Created

John McGrath (King's College London)

NFKB2 was created by JAM22HP

19 Nov 2015, Gel status: 0

Added New Source

John McGrath (King's College London)

NFKB2 was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Expert Review