Primary lymphoedema

Gene: IKBKG

Green List (high evidence)

IKBKG (inhibitor of nuclear factor kappa B kinase subunit gamma)
EnsemblGeneIds (GRCh38): ENSG00000269335
EnsemblGeneIds (GRCh37): ENSG00000073009
OMIM: 300248, Gene2Phenotype
IKBKG is in 18 panels

4 reviews

Sahar Mansour (St George's Hospital, London)

Green List (high evidence)

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)

Phenotypes
Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301

Pia Ostergaard (St George's)

I don't know

Sarah Leigh (Genomics England Curator)

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.

Richard Scott (Genomics England Curator)

Comment on list classification: Lymphedema seen in some males with hypomorphic mutations
Created: 29 Jul 2016, 10:09 p.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301
OMIM
300248
Clinvar variants
Variants in IKBKG
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

23 Jul 2019, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

Source Expert list was added to IKBKG.

2 Nov 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

A combined panel for lymphatic disorders - Meiges disease - Milroy disease - Lymphoedema distichiasis Promoted to V1 02/11/2016

2 Nov 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).

2 Nov 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for IKBKG were set to Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301

30 Sep 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

IKBKG was added to Lymphatic Disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green

30 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

IKBKG was created by sleigh