Primary lymphoedemaGene: IKBKG
X-LINKED hemizygous mutation in males, Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301, monoallelic mutations in females cause disease Incontinentia Pigmenti 308300
Created: 24 Jul 2019, 10:46 a.m. | Last Modified: 24 Jul 2019, 10:46 a.m.
Panel Version: 1.88
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 2 variants reported in 3 cases.
Created: 2 Nov 2016, 10:52 a.m. | Last Modified: 24 Jul 2019, 10:13 a.m.
Panel Version: 1.84
Comment on phenotypes: Also associated with Incontinentia pigmenti, type II, 308300; Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291; Immunodeficiency, isolated, 300584; Immunodeficiency 33 300636; Invasive pneumococcal disease, recurrent isolated, 2 300640
Created: 2 Nov 2016, 10:50 a.m.
Comment on list classification: Lymphedema seen in some males with hypomorphic mutations
Created: 29 Jul 2016, 10:09 p.m.
Source Expert list was added to IKBKG.
A combined panel for lymphatic disorders - Meiges disease - Milroy disease - Lymphoedema distichiasis Promoted to V1 02/11/2016
This gene has been classified as Green List (High Evidence).
Phenotypes for IKBKG were set to Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301
IKBKG was added to Lymphatic Disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
IKBKG was created by sleigh