DMRTA1
Chr 9DMRT like family A1
Also known as: DMO, DMRT4
The DMRTA1 protein is a transcription factor that binds DNA and regulates gene expression involved in sex differentiation and gonadal development. Mutations cause autosomal recessive intellectual disability with microcephaly and growth retardation, typically presenting in early childhood. This gene shows minimal constraint against loss-of-function variants in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
179 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 | 0 | 71 | 0 | 71 |
Likely Pathogenic | 0 | 0 | 6 | 0 | 6 |
VUS | 0 | 80 | 9 | 0 | 89 |
Likely Benign | 0 | 8 | 2 | 0 | 10 |
Benign | 0 | 1 | 0 | 1 | 2 |
| Total | 0 | 89 | 88 | 1 | 178 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DMRTA1 · 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