Ectodermal dysplasia without a known gene mutation
Gene: NFKB2EnsemblGeneIds (GRCh38): ENSG00000077150
EnsemblGeneIds (GRCh37): ENSG00000077150
OMIM: 164012, Gene2Phenotype
NFKB2 is in 5 panels
2 reviews
John McGrath (King's College London)
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 reportedCreated: 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
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 10th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for NFKB2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for NFKB2 were set to Immunodeficiency, common variable, 10 615577
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
John McGrath (King's College London)NFKB2 was created by JAM22HP
Added New Source
John McGrath (King's College London)NFKB2 was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Expert Review