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| Autoinflammatory disorders v3.15 | IKBKE | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are two unrelated cases identified with monoallelic IKBKE variants and functional evidence is also available for these variants. However, different phenotypes were reported in these two patients (HSV-2 meningitis vs autoinflammatory disease). Hence, this gene can only be rated amber with the current evidence.; to: Comment on list classification: There are two unrelated cases identified with monoallelic IKBKE variants and functional evidence is also available for these variants. However, different phenotypes were reported in these two patients and only one of them have autoinflammatory disease (other with HSV-2 meningitis). Hence, this gene can only be rated amber with the current evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v3.15 | IKBKE | Achchuthan Shanmugasundram Entity copied from Primary immunodeficiency or monogenic inflammatory bowel disease v9.71 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v3.15 | IKBKE |
Achchuthan Shanmugasundram gene: IKBKE was added gene: IKBKE was added to Autoinflammatory disorders. Sources: Expert Review Amber,Literature Mode of inheritance for gene: IKBKE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IKBKE were set to 37937644; 39524436 Phenotypes for gene: IKBKE were set to Herpes Simplex Virus type 2 (HSV-2) meningitis; autoinflammatory syndrome, MONDO:0019751 Penetrance for gene: IKBKE were set to unknown |
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