DHX37
Chr 12ADARDEAH-box helicase 37
Also known as: DDX37, Dhr1, NEDBAVC, SRXY11
This gene encodes an ATP-binding RNA helicase that is required for maturation of the small ribosomal subunit and release of U3 snoRNP from pre-ribosomal particles during ribosome biogenesis. Mutations cause 46XY sex reversal and neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, following both autosomal dominant and autosomal recessive inheritance patterns. The gene is highly constrained against loss-of-function variants (pLI 0.99), consistent with its essential role in ribosome biogenesis and development of multiple organ systems including brain and gonads.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
74 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 | 0 | 3 | 16 | 1 | 20 |
Likely Pathogenic | 0 | 7 | 1 | 0 | 8 |
VUS | 2 | 10 | 1 | 0 | 13 |
Likely Benign | 0 | 2 | 0 | 2 | 4 |
Benign | 0 | 6 | 9 | 11 | 26 |
Conflicting | — | 3 | |||
| Total | 2 | 28 | 27 | 14 | 74 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DHX37 · 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