DNAH7

Chr 2

dynein axonemal heavy chain 7

NCBI Gene: 56171ENSG00000118997UniProt: Q8WXX0

Force generating protein that plays an important role in respiratory cilia and sperm flagella beating (PubMed:34476482). Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP (By similarity)

Primary Disease Associations & Inheritance

UniProtCiliary dyskinesia, primary, 50
555
ClinVar variants
16
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— DNAH7
🧬
Gene-Disease Validity (ClinGen)
primary ciliary dyskinesia · ARLimited

Limited evidence — not for standalone diagnostic reporting

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
16 Pathogenic / Likely Pathogenic· 482 VUS of 555 total submissions
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.84LOEUF
pLI 0.000
Z-score 3.50
OE 0.73 (0.63–0.84)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-1.09Z-score
OE missense 1.07 (1.03–1.11)
2195 obs / 2055.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.73 (0.63–0.84)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.07 (1.03–1.11)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.03
0≤1.21.6
LoF obs/exp: 140 / 192.4Missense obs/exp: 2195 / 2055.9Syn Z: -0.64

ClinVar Variant Classifications

555 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic11
Likely Pathogenic5
VUS482
Likely Benign31
Benign20
Conflicting6
11
Pathogenic
5
Likely Pathogenic
482
VUS
31
Likely Benign
20
Benign
6
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
1
0
10
0
11
Likely Pathogenic
4
0
1
0
5
VUS
10
465
7
0
482
Likely Benign
1
13
4
13
31
Benign
0
15
2
3
20
Conflicting
—6
Total164932416555

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

DNAH7 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

📖
GeneReview available — DNAH7
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Whole exome sequencing analysis of 167 men with primary infertility.
Zhou H et al.·BMC Med Genomics
2024
Ciliary Ultrastructure Assessed by Transmission Electron Microscopy in Adults with Bronchiectasis and Suspected Primary Ciliary Dyskinesia but Inconclusive Genotype.
Staar BO et al.·Cells
2023
Biallelic loss-of-function variants of DNAH7 cause male infertility associated with asthenozoospermia in humans.
Zhao G et al.·Hum Genet
2025
Bi-allelic mutations in DNAH7 cause asthenozoospermia by impairing the integrality of axoneme structure.
Wei X et al.·Acta Biochim Biophys Sin (Shanghai)
2021
Clinical and Genetic Analysis of Children with Kartagener Syndrome.
Pereira R et al.·Cells
2019
Identifying potential genetic biomarkers for sperm dysfunction through whole-genome sequencing.
Khan MR et al.·Sci Rep
2025
Genetic variants are identified to increase risk of COVID-19 related mortality from UK Biobank data.
Hu J et al.·Hum Genomics
2021
Recombinant Human Adenovirus Type 5 (H101) Intra-Tumor Therapy in Patients with Persistent, Recurrent, or Metastatic Cervical Cancer: Genomic Profiling Relating to Clinical Efficacy.
Zhang Q et al.·Drug Des Devel Ther
2023Cohort
Deficiency of the Tbc1d21 gene causes male infertility with morphological abnormalities of the sperm mitochondria and flagellum in mice.
Wang YY et al.·PLoS Genet
2020
Cross-reactivity of the BRAF VE1 antibody with epitopes in axonemal dyneins leads to staining of cilia.
Jones RT et al.·Mod Pathol
2015
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools