Ectodermal dysplasia without a known gene mutation
Gene: NFKBIAComment 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.
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.
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
Publications for NFKBIA were set to 23864385; 23239958;15337789; 17931563; 18412279
Publications for NFKBIA were set to 23864385; 23239958; 18412279;15337789; 17931563; 18412279
Promoted to version 1 10th August 2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for NFKBIA were set to Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency 612132
Mode of inheritance for NFKBIA was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Amber List (Moderate Evidence).
Publications for NFKBIA were set to 23864385; 23239958; 18412279
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
Model of inheritance for gene NFKBIA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NFKBIA was added to Ectodermal dysplasia without a known gene mutationpanel. Source: Illumina TruGenome Clinical Sequencing Services
NFKBIA was added to Ectodermal dysplasia without a known gene mutationpanel. Source: Radboud University Medical Center, Nijmegen
NFKBIA was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Radboud University Medical Center, Nijmegen