Primary ciliary disorders
Gene: DNAH9EnsemblGeneIds (GRCh38): ENSG00000007174
EnsemblGeneIds (GRCh37): ENSG00000007174
OMIM: 603330, Gene2Phenotype
DNAH9 is in 6 panels
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: There is sufficient evidence available (eight unrelated cases and functional studies) for the promotion of this gene to green rating on this panel.Created: 10 Oct 2025, 1:50 p.m. | Last Modified: 10 Oct 2025, 1:50 p.m.
Panel Version: 1.55
There are a total of eight unrelated families reported with primary ciliary dyskinesia (PCD) and biallelic DNAH9 variants. There is also functional evidence available in support of the association.
This gene has been associated with 'Ciliary dyskinesia, primary, 40' phenotype in OMIM (MIM #618300, OMIM record accessed on 10 October 2025). This gene is also classified with a 'Definitive' rating for ciliary dyskinesia, primary, 40 (MONDO:0032664) phenotype by the Motile Ciliopathy expert panel in ClinGen (https://search.clinicalgenome.org/CCID:008406)Created: 10 Oct 2025, 1:49 p.m. | Last Modified: 10 Oct 2025, 1:49 p.m.
Panel Version: 1.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 40, OMIM:618300; ciliary dyskinesia, primary, 40, MONDO:0032664
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- 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
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: dnah9 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: dnah9 has been classified as Green List (High Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: DNAH9 were changed from to Ciliary dyskinesia, primary, 40, OMIM:618300; ciliary dyskinesia, primary, 40, MONDO:0032664
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: DNAH9 were set to PMID: 30471717; 30471718
Created, Added New Source, Set mode of inheritance, Set publications
Simon Thomas (Wessex Regional Genetics Laboratory)gene: DNAH9 was added gene: DNAH9 was added to Primary ciliary disorders. Sources: Literature Mode of inheritance for gene: DNAH9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAH9 were set to PMID: 30471717; 30471718 Review for gene: DNAH9 was set to GREEN