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Respiratory ciliopathies including non-CF bronchiectasis v0.34 | RSPH4A |
Louise Daugherty Mode of inheritance for gene RSPH4A was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes sinusitis; chronic wet cough; nasal symptoms; rhinorrhea; recurrent respiratory infections; Primary Ciliary Dyskinesia; rhinitis; Reduced exercise tolerance; otitis media; nasal blockage; Bronchiectasis; short stature; deafness; glue ear; low weight; hearing problems; Ciliary dyskinesia, primary, 11, 612649 for gene: RSPH4A |
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Respiratory ciliopathies including non-CF bronchiectasis v0.3 | RSPH4A |
Louise Daugherty Source Expert Review Green was added to RSPH4A. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Respiratory ciliopathies including non-CF bronchiectasis v0.2 | RSPH4A | Louise Daugherty reviewed gene: RSPH4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v0.1 | RSPH4A |
Louise Daugherty gene: RSPH4A was added gene: RSPH4A was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: RSPH4A was set to |