Osteopetrosis
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
Sangavi Sivagnanasundram (Melbourne Health)
A condition that typically only affects males. Variants associated with osteopetrosis are primarily located in exon 10. Reported individuals also presented with mild skin features consistent with IP.
PMID: 20499091 - 6yr boy with multiple phenotypes including mild osteopetrosis.
PMID: 11242109 - 2 unrelated males with osteopetrosis as a presenting phenotype and X420W mutation was identified. In vitro functional assay showed that this variant does not completely abolish IKBKG activity/protein however impairs the function.Created: 2 Dec 2024, 3:46 a.m. | Last Modified: 2 Dec 2024, 3:46 a.m.
Panel Version: 0.34
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
IKBKG-related immunodeficiency with or without ectodermal dysplasia MONDO:0100162; incontinentia pigmenti MONDO:0010631
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- 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
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: IKBKG was added gene: IKBKG was added to Osteopetrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IKBKG was set to Unknown