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| Respiratory ciliopathies including non-CF bronchiectasis v1.43 | CFTR | Matthew Edwards reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.34 | CFTR |
Louise Daugherty Mode of inheritance for gene CFTR was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cystic Fibrosis; Ciliopathies; Congenital bilateral absence of vas deferens, 277180; Sweat chloride elevation without CF; Cystic fibrosis, 219700; {Hypertrypsinemia, neonatal}; {Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400; Bronchiectasis; {Pancreatitis, idiopathic}, 167800 for gene: CFTR |
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| Respiratory ciliopathies including non-CF bronchiectasis v0.3 | CFTR |
Louise Daugherty Source Expert Review Green was added to CFTR. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Respiratory ciliopathies including non-CF bronchiectasis v0.2 | CFTR | Louise Daugherty reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.1 | CFTR |
Louise Daugherty gene: CFTR was added gene: CFTR was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: CFTR was set to |
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