DNAH7

Chr 2AR

dynein axonemal heavy chain 7

Also known as: CILD50

NCBI Gene: 56171 ENSG00000118997 UniProt: Q8WXX0 OMIM: 610061

DNAH7 encodes a dynein heavy chain protein that generates force for respiratory cilia and sperm flagella beating through its ATPase activity. Biallelic mutations cause primary ciliary dyskinesia, an autosomal recessive disorder affecting respiratory function and fertility. This gene is not highly constrained against loss-of-function variants.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

DNAH7 is a component of the inner dynein arm of ciliary axonemes (Zhang et al., 2002 [PubMed 11877439]).[supplied by OMIM, Mar 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Ciliary dyskinesia, primary, 50MIM #620356

Clinical highlights

Gene–disease validity (ClinGen)

Limited · primary ciliary dyskinesia · AR · ClinGen 2025

not for standalone diagnostic reporting

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.84

LOEUF

GOF

Mechanism· predicted

📖

GeneReview available — DNAH7

Authoritative clinical overview · Recommended first read

Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.84LOEUF

pLI 0.000

Z-score 3.50

OE 0.73 (0.63–0.84)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

-1.09Z-score

OE missense 1.07 (1.03–1.11)

2195 obs / 2055.9 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.73 (0.63–0.84)

0≤0.351.4

Missense OE?1.07 (1.03–1.11)

0≤0.61.4

Synonymous OE?1.03

0≤1.21.6

LoF obs/exp: 140 / 192.4Missense obs/exp: 2195 / 2055.9Syn Z: -0.64

Background carrier burden — how many people carry a rare variant somewhere in DNAH7?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 11

5,325 rare PASS variants

Rare truncating (LoF)

1 in 78

1,024 rare PASS variants

Rare synonymous (reference)

1 in 32

1,762 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for DNAH7. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 14	1 in 88
South Asian	~43k	1 in 10	1 in 58
Remaining (unassigned)	~30k	1 in 10	1 in 73
European (Finnish)	~27k	1 in 35	1 in 190
Admixed American	~22k	1 in 10	1 in 73
African / African American	~21k	1 in 9	1 in 63
East Asian	~20k	1 in 12	1 in 63
Ashkenazi Jewish	~13k	1 in 42	1 in 310
Middle Eastern	~2,884	1 in 11	1 in 79

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 50 of 65 coding exons well covered in gnomAD exomes; exons 2, 5, 6, 8, 9 and 10 more marginal. Genomes: all 65.? see exons ↓