Ectodermal dysplasia
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
gene: NFKBIA was added gene: NFKBIA was added to Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: NFKBIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NFKBIA were set to 17931563; 23864385; 18412279; 15337789; 23239958 Phenotypes for gene: NFKBIA were set to Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency 612132