Ectodermal dysplasia without a known gene mutation
Gene: IKBKG
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Hypohidrotic ectodermal dysplasia, with immune deficiency; Incontinentia pigmenti
Comment on mode of inheritance: Confirmed in G2P.Created: 22 Jul 2016, 2:28 p.m.
Comment on list classification: Promoted from amber to green due to expert review. It is also a confirmed DD gene for ectodermal dysplasia anhidrotic with immunodeficiency X-linked, and ectodermal dysplasia anhidrotic with immunodeficiency-osteopetrosis lymphedema.Created: 22 Jul 2016, 2:28 p.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.
Phenotypes for gene: IKBKG were changed from Incontinentia pigmenti, type II, 308300; Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301; Immunodeficiency, isolated, 300584; {Atypical mycobacteriosis, familial}, 300636:Invasive pneumococcal disease, recurrent isolated, 2, 300640; Ectodermal Dysplasia, Hypohidrotic, With Immune Deficiency to Ectodermal dysplasia and immunodeficiency 1, OMIM:300291
Promoted to version 1 10th August 2016
This gene has been classified as Green List (High Evidence).
Mode of inheritance for IKBKG was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
IKBKG was added to Ectodermal dysplasia without a known gene mutationpanel. Source: UKGTN
IKBKG was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Radboud University Medical Center, Nijmegen