DLX5
Chr 7ARADdistal-less homeobox 5
The protein is a homeobox transcription factor that regulates bone development by activating genes essential for osteoblast differentiation and chondrogenesis. Mutations cause split-hand/split-foot malformation, typically involving limb defects present at birth, and follow an autosomal dominant inheritance pattern. The gene shows moderate intolerance to loss-of-function variants (LOEUF 0.68), consistent with its role in developmental processes.
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
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.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
119 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 | 2 | 2 | 18 | 0 | 22 |
Likely Pathogenic | 2 | 3 | 2 | 0 | 7 |
VUS | 6 | 44 | 5 | 1 | 56 |
Likely Benign | 0 | 3 | 4 | 11 | 18 |
Benign | 0 | 0 | 7 | 2 | 9 |
Conflicting | — | 1 | |||
| Total | 10 | 52 | 36 | 14 | 113 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DLX5 · 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