Syndromic Retinopathy
Gene: IKBKG
IKBKG (inhibitor of nuclear factor kappa B kinase subunit gamma)
EnsemblGeneIds (GRCh38): ENSG00000269335
EnsemblGeneIds (GRCh37): ENSG00000073009
OMIM: 300248, Gene2Phenotype
IKBKG is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000269335
EnsemblGeneIds (GRCh37): ENSG00000073009
OMIM: 300248, Gene2Phenotype
IKBKG is in 24 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association. Eye involvement is variable, but retinal abnormalities are common including retinal vascular proliferation, retinal ischaemia, retinal bleeding, retinal fibrosis, retinal detachment, foveal hypoplasia, foveal disorganisation.
Sources: Expert listCreated: 12 Oct 2020, 12:13 a.m.
Mode of inheritance
Other
Phenotypes
Incontinentia pigmenti, MIM# 308300
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Incontinentia pigmenti, MIM# 308300
- OMIM
- 300248
- Clinvar variants
- Variants in IKBKG
- Penetrance
- None
- Panels with this gene
-
- Ectodermal Dysplasia
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Prepair 1000+
- Lymphoedema_syndromic
- Inflammatory bowel disease
- BabyScreen+ newborn screening
- Autoinflammatory Disorders
- Vasculitis
- Osteopetrosis
- Lymphoedema_nonsyndromic
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Macrocephaly_Megalencephaly
- Anophthalmia_Microphthalmia_Coloboma
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Mosaic skin disorders
- Mendeliome
- Oligodontia
- Cataract
- Syndromic Retinopathy
- Epidermolysis bullosa
History Filter Activity
12 Oct 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ikbkg has been classified as Green List (High Evidence).
12 Oct 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ikbkg has been classified as Green List (High Evidence).
12 Oct 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: IKBKG was added gene: IKBKG was added to Syndromic Retinopathy. Sources: Expert list Mode of inheritance for gene: IKBKG was set to Other Phenotypes for gene: IKBKG were set to Incontinentia pigmenti, MIM# 308300 Review for gene: IKBKG was set to GREEN