DNAH9
Chr 17ARdynein axonemal heavy chain 9
Also known as: CILD40, DNAH17L, DNEL1, DYH9, Dnahc9, HL-20, HL20
This gene encodes a heavy chain subunit of axonemal dynein, a molecular motor that hydrolyzes ATP to generate force for ciliary beating in respiratory epithelia and other tissues. Mutations cause primary ciliary dyskinesia with autosomal recessive inheritance, resulting in chronic respiratory infections, bronchiectasis, and often situs inversus due to defective ciliary function. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.722), and symptoms typically begin in early childhood with recurrent respiratory tract infections.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
600 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 24 | 0 | 0 | 0 | 24 |
Likely Pathogenic | 11 | 0 | 0 | 0 | 11 |
VUS | 0 | 298 | 8 | 1 | 307 |
Likely Benign | 1 | 7 | 77 | 142 | 227 |
Benign | 0 | 0 | 3 | 0 | 3 |
Conflicting | — | 7 | |||
| Total | 36 | 305 | 88 | 143 | 579 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DNAH9 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools