SALL1 spalt like transcription factor 1

Gene info

Synonyms

Hsal1, ZNF794

Previous symbol

TBS

External ID

HGNC: 10524
Entrez Gene: 6299
Ensembl: ENSG00000103449
UCSC: uc059ucs.1
OMIM: 602218
UniProtKB: Q9NSC2

Disease info

Disease

CHD Phenotype

  • Atrial septal defect
  • Truncus arteriosus
  • Ventricular septal defect
  • Absent pulmonary valve

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: no cardiovascular defect recorded

MGI ID

Variant info

Clinvar

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for SALL1: BED file

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Selected References

  1. Surka, W. S., Kohlhase, J., Neunert, C. E., Schneider, D. S., & Proud, V. K. (2001). Unique family with Townes-Brocks syndrome,SALL1 mutation, and cardiac defects. American Journal of Medical Genetics, 102(3), 250–257. DOI:10.1002/1096-8628(20010815)102:3<250::AID-AJMG1479>3.0.CO;2-Q PMID:11484202
  2. Kohlhase, J. (2003). High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case. Journal of Medical Genetics, 40(11), 127e–127. DOI:10.1136/jmg.40.11.e127 PMID:14627694
  3. Botzenhart, E. M., Bartalini, G., Blair, E., Brady, A. F., Elmslie, F., Chong, K. L., … Kohlhase, J. (2007). Townes-Brocks syndrome: twenty novelSALL1 mutations in sporadic and familial cases and refinement of theSALL1 hot spot region. Human Mutation, 28(2), 204–205. DOI:10.1002/humu.9476 PMID:17221874