Primary lymphoedema
Gene: IKBKGEnsemblGeneIds (GRCh38): ENSG00000269335
EnsemblGeneIds (GRCh37): ENSG00000073009
OMIM: 300248, Gene2Phenotype
IKBKG is in 19 panels
4 reviews
Sahar Mansour (St George's Hospital, London)
X-LINKED hemizygous mutation in males, Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301, monoallelic mutations in females cause disease Incontinentia Pigmenti 308300Created: 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)
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 300640Created: 2 Nov 2016, 10:50 a.m.
Richard Scott (Genomics England Curator)
Comment on list classification: Lymphedema seen in some males with hypomorphic mutationsCreated: 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 and immunodeficiency 1, OMIM:300291
- OMIM
- 300248
- Clinvar variants
- Variants in IKBKG
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Rare genetic inflammatory skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Retinal disorders
- DDG2P
- Fetal anomalies
- COVID-19 research
- Ectodermal dysplasia
- Epidermolysis bullosa and congenital skin fragility
- Ectodermal dysplasia without a known gene mutation
- Structural eye disease
- Mosaic skin disorders - deep sequencing
- Incontinentia pigmenti
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Gastrointestinal epithelial barrier disorders
- Primary lymphoedema
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Autoinflammatory disorders
- Intellectual disability
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: IKBKG were changed from Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301 to Ectodermal dysplasia and immunodeficiency 1, OMIM:300291
Added New Source
Sarah Leigh (Genomics England Curator)Source Expert list was added to IKBKG.
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
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for IKBKG were set to Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301
Added New Source
Sarah Leigh (Genomics England Curator)IKBKG was added to Lymphatic Disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Created
Sarah Leigh (Genomics England Curator)IKBKG was created by sleigh