DACH1
Chr 13dachshund family transcription factor 1
Also known as: DACH
DACH1 encodes a chromatin-associated transcription factor that regulates organogenesis and cell fate determination during development, including control of precursor cell proliferation and TGF-beta signaling pathways. Mutations cause autosomal dominant developmental disorders affecting multiple organ systems. This gene is highly constrained against loss-of-function variants, indicating that such mutations are typically severe.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
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
161 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 | 65 | 0 | 65 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 73 | 12 | 0 | 85 |
Likely Benign | 0 | 1 | 1 | 3 | 5 |
Benign | 0 | 0 | 0 | 1 | 1 |
Conflicting | — | 1 | |||
| Total | 0 | 74 | 78 | 4 | 157 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DACH1 · 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