RECQL4

Chr 8

RecQ like helicase 4

Also known as: RECQ4

NCBI Gene: 9401ENSG00000160957UniProt: O94761

The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtRAPADILINO syndrome
UniProtBaller-Gerold syndrome
UniProtRothmund-Thomson syndrome 2

Clinical highlights

Gene-disease validity (ClinGen)
Rothmund-Thomson syndrome · ARDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
56
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.21
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — RECQL4
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?
1.21LOEUF
pLI 0.000
Z-score 0.25
OE 0.96 (0.77–1.21)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-4.22Z-score
OE missense 1.43 (1.36–1.51)
1074 obs / 748.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.96 (0.77–1.21)
0≤0.351.4
Missense OE?1.43 (1.36–1.51)
0≤0.61.4
Synonymous OE?1.63
0≤1.21.6
LoF obs/exp: 54 / 56.0Missense obs/exp: 1074 / 748.9Syn Z: -8.69

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RECQL4 · protein map & ClinVar variants

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

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

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients