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| Ciliary Dyskinesia v1.9 | SCNN1B | Zornitza Stark Classified gene: SCNN1B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v1.9 | SCNN1B | Zornitza Stark Gene: scnn1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v1.8 | SCNN1B | Zornitza Stark reviewed gene: SCNN1B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.69 | SCNN1B | Zornitza Stark Marked gene: SCNN1B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.69 | SCNN1B | Zornitza Stark Gene: scnn1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.69 | SCNN1B | Zornitza Stark Classified gene: SCNN1B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.69 | SCNN1B | Zornitza Stark Gene: scnn1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.68 | SCNN1B |
Crystle Lee gene: SCNN1B was added gene: SCNN1B was added to Ciliary Dyskinesia. Sources: Expert Review Mode of inheritance for gene: SCNN1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCNN1B were set to 22207244; 16207733; 18507830 Phenotypes for gene: SCNN1B were set to Bronchiectasis with or without elevated sweat chloride 1 (MIM#211400) Review for gene: SCNN1B was set to GREEN Added comment: Phenotypic overlap with PCD Encodes for the beta subunit of the epithelial sodium channel, which is distributed along the motile cilia. (PMID: 22207244) PMID: 16207733: 2 patients reported PMID: 18507830: 2 patients with bronchiectasis Sources: Expert Review |
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