SALL4

Chr 20AD

spalt like transcription factor 4

Also known as: DRRS, HSAL4, IVIC, ZNF797

NCBI Gene: 57167 ENSG00000101115 UniProt: Q9UJQ4 OMIM: 607343

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.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a zinc finger transcription factor thought to play a role in the development of abducens motor neurons. Defects in this gene are a cause of Duane-radial ray syndrome (DRRS). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?IVIC syndromeMIM #147750

Duane-radial ray syndromeMIM #607323

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

145

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.10

LOEUF· LoF intol.

LOF

Mechanism· G2P

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