DNAH7

Chr 2

dynein axonemal heavy chain 7

Also known as: CILD50

NCBI Gene: 56171 ENSG00000118997 UniProt: Q8WXX0

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 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 ResearchGenerating clinical summary…

GOFmechanismLOEUF 0.84

Clinical Summary— DNAH7

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Gene-Disease Validity (ClinGen)

primary ciliary dyskinesia · ARLimited

Limited evidence — not for standalone diagnostic reporting

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

16 unique Pathogenic / Likely Pathogenic· 638 VUS of 833 total submissions

Explore recent and relevant literature in Research Assistant →

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GeneReview available — DNAH7

Authoritative clinical overview · Recommended first read

Open GeneReview ↗

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?

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

This gene — mechanism propensity

0.5673th %ile

GOF

0.7028th %ile

LOF

0.3067th %ile

The highest-scoring mechanism for this gene is gain-of-function.

GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

833 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic3

Likely Pathogenic13

VUS638

Likely Benign73

Benign51

Conflicting10

Pathogenic

Likely Pathogenic

638

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	1	2	0	0	3
Likely Pathogenic	12	1	0	0	13
VUS	13	622	2	1	638
Likely Benign	5	33	9	26	73
Benign	1	32	6	12	51
Conflicting	—				10
Total	32	690	17	39	788

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

View in ClinVar →

33 pathogenic / likely-pathogenic (of 38) ClinVar copy-number / structural variants overlap DNAH7 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →