Laterality disorders and isomerism

Gene: DNAH9

Green List (high evidence)

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 inversus

Created: 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

• 30471717
• 30471718

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.

Green List (high evidence)

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

Created: 20 Jan 2019, 6 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary ciliary dyskinesia