SALL4
Chr 20ADspalt like transcription factor 4
Also known as: DRRS, HSAL4, IVIC, ZNF797
This gene encodes a zinc finger transcription factor essential for maintaining and renewing embryonic and hematopoietic stem cells. Mutations cause Duane-radial ray syndrome and IVIC syndrome, both presenting with characteristic eye movement abnormalities (Duane anomaly) and limb malformations affecting the radial ray. The gene follows autosomal dominant inheritance and is highly constrained against loss-of-function variation, indicating critical developmental importance.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (loss-of-function and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to loss-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Literature Evidence
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SALL4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools