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Respiratory ciliopathies including non-CF bronchiectasis v0.137 | DNAH9 | Louise Daugherty edited their review of gene: DNAH9: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v0.137 | DNAH9 | Louise Daugherty Mode of inheritance for gene: DNAH9 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v0.136 | DNAH9 | Louise Daugherty Added comment: Comment on publications: Added publication to support gene-disease association and rating of this gene to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v0.136 | DNAH9 | Louise Daugherty Publications for gene: DNAH9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v0.135 | DNAH9 | Anna de Burca Phenotypes for gene: DNAH9 were changed from Primary c to Primary ciliary dyskinesia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v0.134 | DNAH9 | Anna de Burca Phenotypes for gene: DNAH9 were changed from to Primary c | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v0.133 | DNAH9 | Anna de Burca Classified gene: DNAH9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v0.133 | DNAH9 |
Anna de Burca Added comment: Comment on list classification: Recent publication Fassad et al Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus https://www.sciencedirect.com/science/article/pii/S0002929718303689 reports two unrelated probands and a sibling pair with biallelic variants in DNAH9, as well as functional evidence that DNAH9 mutaitons affect ciliary function. |
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Respiratory ciliopathies including non-CF bronchiectasis v0.133 | DNAH9 | Anna de Burca Gene: dnah9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v0.3 | DNAH9 |
Louise Daugherty Source Expert Review Amber was added to DNAH9. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Respiratory ciliopathies including non-CF bronchiectasis v0.2 | DNAH9 | Louise Daugherty reviewed gene: DNAH9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v0.1 | DNAH9 |
Louise Daugherty gene: DNAH9 was added gene: DNAH9 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: DNAH9 was set to |