Ectodermal dysplasia without a known gene mutation
Gene: NFKBIAEnsemblGeneIds (GRCh38): ENSG00000100906
EnsemblGeneIds (GRCh37): ENSG00000100906
OMIM: 164008, Gene2Phenotype
NFKBIA is in 5 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)
Okay to include for anhidrotic ED with immunodeficiencyCreated: 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
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency 612132
- OMIM
- 164008
- Clinvar variants
- Variants in NFKBIA
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set publications
Sarah Leigh (Genomics England Curator)Publications for NFKBIA were set to 23864385; 23239958;15337789; 17931563; 18412279
Set publications
Sarah Leigh (Genomics England Curator)Publications for NFKBIA were set to 23864385; 23239958; 18412279;15337789; 17931563; 18412279
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).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for NFKBIA were set to Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency 612132
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for NFKBIA was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for NFKBIA were set to 23864385; 23239958; 18412279
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for NFKBIA were set to anhidrotic Ectodermal dysplasia with immunodeficiency; Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, 612132; Ectodermal Dysplasia, Anhidrotic, with T-cell Immunodeficiency
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene NFKBIA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)NFKBIA was added to Ectodermal dysplasia without a known gene mutationpanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)NFKBIA was added to Ectodermal dysplasia without a known gene mutationpanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)NFKBIA was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Radboud University Medical Center, Nijmegen