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| Ciliary Dyskinesia v0.89 | NFKB2 | Zornitza Stark Marked gene: NFKB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.89 | NFKB2 | Zornitza Stark Added comment: Comment when marking as ready: Not a PCD, but can have overlapping presenting features. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.89 | NFKB2 | Zornitza Stark Gene: nfkb2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.89 | NFKB2 | Zornitza Stark Classified gene: NFKB2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.89 | NFKB2 | Zornitza Stark Gene: nfkb2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.76 | NFKB2 |
Elena Savva gene: NFKB2 was added gene: NFKB2 was added to Ciliary Dyskinesia. Sources: Expert list Mode of inheritance for gene: NFKB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NFKB2 were set to PMID: 30941118 Phenotypes for gene: NFKB2 were set to Immunodeficiency, common variable, 10 615577 Review for gene: NFKB2 was set to AMBER Added comment: PMID: 30941118 - reports 11 unrelated families (15 patients), four families carry the recurring nonsense p.Arg853* mutation. Many patients report recurrent upper and lower respiratory infections (>80%), less commonly bronchiectasis (57%) Summary: really doesnt seem like a PCD gene but some features are shared. Sources: Expert list |
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