Laterality disorders and isomerism
Gene: DNAH9
On CGGL Royal Brompton panel. Good literature
DNAH9 encodes a heavy chain of the ciliary outer dynein arm complex, and compound heterozygous of homozygous loss-of-function variants in DNAH9 have recently been shown to cause motile cilia defects in small patient cohorts (Fassad et al (2018) Am J Hum Genet 103(6):984-994; Loges et al (2018) Am J hum Genet 103(6):995-1008) . Patients in these studies were shown to have a relatively mild respiratory phenotype without bronchiectasis, and all had situs inversusCreated: 25 Nov 2019, 10:30 p.m. | Last Modified: 25 Nov 2019, 10:30 p.m.
Panel Version: 0.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OMIM 618300 Ciliary dyskinesia, primary, 40
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.Created: 21 Jan 2019, 5:08 p.m.
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 ReviewCreated: 20 Jan 2019, 6 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary ciliary dyskinesia
Phenotypes for gene: DNAH9 were changed from Primary ciliary dyskinesia to Primary ciliary dyskinesia, 40, 618300
Publications for gene: DNAH9 were set to 30471717
Publications for gene: DNAH9 were set to
Gene: dnah9 has been classified as Green List (High Evidence).
Gene: dnah9 has been classified as Green List (High Evidence).
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