DMRT1

Chr 9

doublesex and mab-3 related transcription factor 1

Also known as: CT154, DMT1

NCBI Gene: 1761ENSG00000137090UniProt: Q9Y5R6OMIM: 602424

DMRT1 encodes a transcription factor that controls male sex determination and testis development by regulating spermatogonial cell proliferation and preventing meiosis in undifferentiated germ cells. Mutations cause disorders of sex development, specifically XY gonadal dysgenesis with defective testicular development and feminization in individuals with XY chromosomes. The gene shows autosomal inheritance and is highly constrained against loss-of-function mutations (LOEUF 0.479), reflecting its critical role in male sexual development.

OMIMResearchSummary from RefSeq, UniProt
LOFmechanismLOEUF 0.48
Clinical Summary— DMRT1
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Gene-Disease Validity (ClinGen)
spermatogenic failure · ADDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.74) — some intolerance to loss-of-function variants.
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ClinVar Variants
51 unique Pathogenic / Likely Pathogenic· 87 VUS of 200 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.48LOEUF
pLI 0.739
Z-score 2.85
OE 0.15 (0.06–0.48)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
-0.44Z-score
OE missense 1.08 (0.97–1.21)
234 obs / 215.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.15 (0.06–0.48)
0≤0.351.4
Missense OE1.08 (0.97–1.21)
0≤0.61.4
Synonymous OE1.48
0≤1.21.6
LoF obs/exp: 2 / 13.2Missense obs/exp: 234 / 215.9Syn Z: -3.60
DN
0.4388th %ile
GOF
0.2597th %ile
LOF
0.79top 5%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.48

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

200 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic38
Likely Pathogenic13
VUS87
Likely Benign25
Benign31
Conflicting1
38
Pathogenic
13
Likely Pathogenic
87
VUS
25
Likely Benign
31
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
38
0
38
Likely Pathogenic
3
5
5
0
13
VUS
0
69
18
0
87
Likely Benign
0
2
6
17
25
Benign
0
2
24
5
31
Conflicting
—1
Total3789122195

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

View in ClinVar →

Protein Context — Lollipop Plot

DMRT1 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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