SALL1

Chr 16AD

spalt like transcription factor 1

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

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]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Townes-Brocks branchiootorenal-like syndromeMIM #107480
AD
Townes-Brocks syndrome 1MIM #107480
AD

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.
0
Active trials
46
Pubs (1 yr)
P/LP submissions
P/LP missense
0.20
LOEUF· LoF intol.
LOF
Mechanism· G2P

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint?
0.20LOEUF
pLI 1.000
Z-score 4.92
OE 0.06 (0.020.20)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
0.72Z-score
OE missense 0.93 (0.870.99)
687 obs / 742.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.06 (0.020.20)
00.351.4
Missense OE?0.93 (0.870.99)
00.61.4
Synonymous OE?1.04
01.21.6
LoF obs/exp: 2 / 32.1Missense obs/exp: 687 / 742.3Syn Z: -0.50

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SALL1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →