Retinal disorders
Gene: IKBKGEnsemblGeneIds (GRCh38): ENSG00000269335
EnsemblGeneIds (GRCh37): ENSG00000073009
OMIM: 300248, Gene2Phenotype
IKBKG is in 19 panels
2 reviews
Catherine Snow (Genomics England)
Comment on mode of inheritance: IKBKG is associated with IP as commented by Robert Henderson GOSH. IP is XLD in OMIMCreated: 8 Oct 2019, 9:22 a.m. | Last Modified: 8 Oct 2019, 9:22 a.m.
Panel Version: 1.199
Comment on phenotypes: IKBKG is associated with IP as commented by Robert Henderson GOSHCreated: 8 Oct 2019, 9:21 a.m. | Last Modified: 8 Oct 2019, 9:21 a.m.
Panel Version: 1.198
IKBKG rated as Green as has a relevant phenotype to be included on the panel following discussion in Genomics England Clinical Team Meeting, 7th October 2019.Created: 7 Oct 2019, 4:26 p.m. | Last Modified: 7 Oct 2019, 4:26 p.m.
Panel Version: 1.194
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
Incontinentia pigmenti, 308300
Robert Henderson (Great Ormond Street Hospital)
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 Review Green
- NHS GMS
- Phenotypes
-
- Incontinentia pigmenti, OMIM:308300
- OMIM
- 300248
- Clinvar variants
- Variants in IKBKG
- Penetrance
- None
- Panels with this gene
-
- Rare genetic inflammatory skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Early onset or syndromic epilepsy
- DDG2P
- COVID-19 research
- Ectodermal dysplasia
- Retinal disorders
- Epidermolysis bullosa and congenital skin fragility
- Ectodermal dysplasia without a known gene mutation
- Structural eye disease
- Mosaic skin disorders - deep sequencing
- Incontinentia pigmenti
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- Skeletal dysplasia
- 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 Incontinentia pigmenti, 308300 to Incontinentia pigmenti, OMIM:308300
Set mode of inheritance
Catherine Snow (Genomics England)Mode of inheritance for gene: IKBKG was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Set Phenotypes
Catherine Snow (Genomics England)Phenotypes for gene: IKBKG were changed from Incontinentia pigmenti, 308300 to Incontinentia pigmenti, 308300
Set Phenotypes
Catherine Snow (Genomics England)Phenotypes for gene: IKBKG were changed from to Incontinentia pigmenti, 308300
Set mode of inheritance
Catherine Snow (Genomics England)Mode of inheritance for gene: IKBKG was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: ikbkg has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: IKBKG was added gene: IKBKG was added to Retinal disorders. Sources: NHS GMS Mode of inheritance for gene: IKBKG was set to