DHX37

Chr 12ADAR

DEAH-box helicase 37

Also known as: DDX37, Dhr1, NEDBAVC, SRXY11

NCBI Gene: 57647 ENSG00000150990 UniProt: Q8IY37 OMIM: 617362

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.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a DEAD box protein. 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 family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

AD/ARLOEUF 0.292 OMIM phenotypes

Clinical Summary— DHX37

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.99). One damaged copy is likely sufficient to cause disease.

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ClinVar Variants

16 unique Pathogenic / Likely Pathogenic· 333 VUS of 645 total submissions

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GeneReview available — DHX37

Authoritative clinical overview · Recommended first read

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

LoF intolerant — likely haploinsufficient

LoF Constraint?

0.29LOEUF

pLI 0.993

Z-score 5.89

OE 0.17 (0.10–0.29)

Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?

1.83Z-score

OE missense 0.81 (0.76–0.87)

594 obs / 733.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.17 (0.10–0.29)

0≤0.351.4

Missense OE?0.81 (0.76–0.87)

0≤0.61.4

Synonymous OE?0.96

0≤1.21.6

LoF obs/exp: 10 / 58.7Missense obs/exp: 594 / 733.3Syn Z: 0.54

ClinVar Variant Classifications

645 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic4

Likely Pathogenic12

VUS333

Likely Benign194

Benign61

Conflicting17

Pathogenic

Likely Pathogenic

333

VUS

194

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	3	0	1	4
Likely Pathogenic	3	9	0	0	12
VUS	14	300	17	2	333
Likely Benign	0	19	76	99	194
Benign	0	16	30	15	61
Conflicting	—				17
Total	17	347	123	117	621

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

View in ClinVar →

23 pathogenic / likely-pathogenic (of 30) ClinVar copy-number / structural variants overlap DHX37 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →