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| Ciliary Dyskinesia v0.90 | NFKB1 | Zornitza Stark Marked gene: NFKB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.90 | NFKB1 | Zornitza Stark Added comment: Comment when marking as ready: Not a PCD, but overlapping clinical features. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.90 | NFKB1 | Zornitza Stark Gene: nfkb1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.90 | NFKB1 | Zornitza Stark Classified gene: NFKB1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.90 | NFKB1 | Zornitza Stark Gene: nfkb1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.76 | NFKB1 |
Elena Savva gene: NFKB1 was added gene: NFKB1 was added to Ciliary Dyskinesia. Sources: Expert list Mode of inheritance for gene: NFKB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NFKB1 were set to PMID: 32278790 Phenotypes for gene: NFKB1 were set to Immunodeficiency, common variable, 12 616576 Review for gene: NFKB1 was set to AMBER Added comment: PMID: 32278790 - review of >150 patients with heterozygous mutations found ~25% had bronchiectasis, and 83% had upper respiratory infections. Incomplete penetrance (70%) with age dependent severity well reported. OMIM describes haploinsufficiency Summary: really doesnt seem like a PCD gene but some features are shared. Sources: Expert list |
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