Respiratory ciliopathies including non-CF bronchiectasis
Gene: DNAH9EnsemblGeneIds (GRCh38): ENSG00000007174
EnsemblGeneIds (GRCh37): ENSG00000007174
OMIM: 603330, Gene2Phenotype
DNAH9 is in 6 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: OMIM phenotype accessed on 10 October 2025.Created: 10 Oct 2025, 2:02 p.m. | Last Modified: 10 Oct 2025, 2:02 p.m.
Panel Version: 4.47
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
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.Created: 20 Jan 2019, 5:56 p.m.
Louise Daugherty (Genomics England Curator)
Comment on publications: From From GMS Respiratory Specialist Test Group webex call 18th Jan 2019. 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, 5:06 p.m.
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: DNAH9; Suggested initial gene rating: Amber; Evidence for inclusion: Dynein arm gene (biological link to motile cilia); Evidence for exclusion: No association yet with PCD.; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 5 Dec 2018, 1:54 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Phenotypes
-
- Ciliary dyskinesia, primary, 40, OMIM:618300
- ciliary dyskinesia, primary, 40, MONDO:0032664
- OMIM
- 603330
- Clinvar variants
- Variants in DNAH9
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: DNAH9 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 40, OMIM:618300; ciliary dyskinesia, primary, 40, MONDO:0032664
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: DNAH9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: DNAH9 were set to
Set Phenotypes
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Phenotypes for gene: DNAH9 were changed from Primary c to Primary ciliary dyskinesia
Set Phenotypes
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Phenotypes for gene: DNAH9 were changed from to Primary c
Entity classified by Genomics England curator
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Gene: dnah9 has been classified as Green List (High Evidence).
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Amber was added to DNAH9. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)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