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| Laterality disorders and isomerism v0.91 | DNAH9 | Louise Daugherty Phenotypes for gene: DNAH9 were changed from Primary ciliary dyskinesia to Primary ciliary dyskinesia, 40, 618300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.90 | DNAH9 | Louise Daugherty Publications for gene: DNAH9 were set to 30471717 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.51 | DNAH9 | Matthew Edwards reviewed gene: DNAH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 30471717, 30471718; Phenotypes: OMIM 618300 Ciliary dyskinesia, primary, 40; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.21 | DNAH9 | Louise Daugherty Added comment: Comment on publications: Comment on publications: Added publication to support gene-disease association and rating of this gene to Green. 4 cases from 3 families & functional data. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.21 | DNAH9 | Louise Daugherty Publications for gene: DNAH9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.14 | DNAH9 | Anna de Burca Marked gene: DNAH9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.14 | DNAH9 | Anna de Burca Gene: dnah9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.14 | DNAH9 | Anna de Burca Classified gene: DNAH9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.14 | DNAH9 | Anna de Burca Gene: dnah9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.13 | DNAH9 |
Anna de Burca gene: DNAH9 was added gene: DNAH9 was added to Laterality disorders and isomerism. Sources: Expert Review Mode of inheritance for gene: DNAH9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAH9 were set to Primary ciliary dyskinesia Review for gene: DNAH9 was set to GREEN Added comment: 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. All affected individuals had situs inversus. Sources: Expert Review |
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