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Respiratory ciliopathies including non-CF bronchiectasis v0.34 SCNN1A Louise Daugherty Mode of inheritance for gene SCNN1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Ciliopathies; Bronchiectasis with or without elevated sweat chloride 2, 613021; Bronchiectasis; Pseudohypoaldosteronism, type I, 264350 for gene: SCNN1A
Respiratory ciliopathies including non-CF bronchiectasis v0.3 SCNN1A Louise Daugherty Source Expert Review Green was added to SCNN1A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.2 SCNN1A Louise Daugherty reviewed gene: SCNN1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.1 SCNN1A Louise Daugherty gene: SCNN1A was added
gene: SCNN1A was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: SCNN1A was set to