DHX32

Chr 10

DEAH-box helicase 32 (putative)

Also known as: DDX32, DHLP1

NCBI Gene: 55760 ENSG00000089876 UniProt: Q7L7V1 OMIM: 607960

The protein is a DEAD box RNA helicase involved in cellular processes that alter RNA secondary structure including translation initiation, nuclear and mitochondrial splicing, and ribosome assembly. Mutations in DHX32 cause autosomal recessive neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities. This gene shows minimal constraint against loss-of-function variants, consistent with recessive inheritance where heterozygous carriers are typically unaffected.

OMIM ResearchSummary from RefSeq

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates 2 transcript variants, but the full length nature of one of the variants has not been defined. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

LOFmechanismLOEUF 0.89

Clinical Summary— DHX32

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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

294 VUS of 479 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.89LOEUF

pLI 0.000

Z-score 2.05

OE 0.61 (0.42–0.89)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.26Z-score

OE missense 0.82 (0.75–0.90)

331 obs / 402.1 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.61 (0.42–0.89)

0≤0.351.4

Missense OE?0.82 (0.75–0.90)

0≤0.61.4

Synonymous OE?1.00

0≤1.21.6

LoF obs/exp: 19 / 31.4Missense obs/exp: 331 / 402.1Syn Z: -0.01

Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗

limitedDHX32-related retinitis pigmentosaLOFAR

This gene — mechanism propensity

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

0.6260th %ile

GOF

0.5072th %ile

LOF

0.3355th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

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

ClinVar Variant Classifications

479 submitted variants in ClinVar

ClinVar

Classification Summary

VUS294

Likely Benign145

Benign17

Conflicting3

294

VUS

145

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0	0
Likely Pathogenic	0	0	0	0	0
VUS	23	258	10	3	294
Likely Benign	0	4	52	89	145
Benign	0	3	3	11	17
Conflicting	—				3
Total	23	265	65	103	459

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

View in ClinVar →

67 pathogenic / likely-pathogenic (of 78) ClinVar copy-number / structural variants overlap DHX32 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →