Activity
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| Osteopetrosis v0.34 | IKBKG |
Sangavi Sivagnanasundram changed review comment from: 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. In vitro functional assay showed that this variant does not completely abolish IKBKG activity/protein however impairs the function.; to: 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. |
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| Osteopetrosis v0.34 | IKBKG | Sangavi Sivagnanasundram reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301645, 20499091, 11242109; Phenotypes: IKBKG-related immunodeficiency with or without ectodermal dysplasia MONDO:0100162, incontinentia pigmenti MONDO:0010631; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteopetrosis v0.0 | IKBKG |
Zornitza Stark 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 |
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