SALL1

Chr 16AD

spalt like transcription factor 1

Also known as: HEL-S-89, HSAL1, Sal-1, TBS, ZNF794

NCBI Gene: 6299 ENSG00000103449 UniProt: Q9NSC2 OMIM: 602218

This gene encodes a zinc finger transcriptional repressor that plays an essential role in organogenesis, particularly ureteric bud invasion during kidney development. Mutations cause Townes-Brocks syndrome, which affects the kidneys, ears, and other organ systems, with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants (pLI 0.99, LOEUF 0.20), indicating that most pathogenic variants are likely missense changes.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as bronchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Townes-Brocks branchiootorenal-like syndromeMIM #107480

Townes-Brocks syndrome 1MIM #107480

Clinical highlights

Gene-disease validity (ClinGen)

Townes-Brocks syndrome 1 · ADDefinitivesufficient evidence for diagnostic panels

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

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.20

LOEUF· LoF intol.

LOF

Mechanism· G2P