Ectodermal dysplasia without a known gene mutation

Gene: NFKBIA

Green List (high evidence)

NFKBIA (NFKB inhibitor alpha)
EnsemblGeneIds (GRCh38): ENSG00000100906
EnsemblGeneIds (GRCh37): ENSG00000100906
OMIM: 164008, Gene2Phenotype
NFKBIA is in 7 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
  • 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

15 Aug 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for NFKBIA were set to 23864385; 23239958;15337789; 17931563; 18412279

15 Aug 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for NFKBIA were set to 23864385; 23239958; 18412279;15337789; 17931563; 18412279

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

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: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for NFKBIA were set to Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency 612132

10 Aug 2016, Gel status: 2

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

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

25 Jul 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

22 Jul 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for NFKBIA were set to 23864385; 23239958; 18412279

22 Jul 2016, Gel status: 2

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

8 Oct 2015, Gel status: 2

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

8 Oct 2015, Gel status: 2

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

8 Oct 2015, Gel status: 1

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

8 Oct 2015, Gel status: 1

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