SALL4 spalt like transcription factor 4

Gene info

Synonyms

None

Previous symbol

None

External ID

HGNC: 15924
Entrez Gene: 57167
Ensembl: ENSG00000101115
UCSC: uc002xwh.6
OMIM: 607343
UniProtKB: Q9UJQ4

Disease info

Disease

CHD Phenotype

  • Ventricular septal defect
  • Patent ductus arteriosus
  • Tetralogy of fallot

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Yes

Animal model

Mouse study

MGI: Heterozygous knockout mouse has CHD

MGI ID

2139360

Variant info

Clinvar

SALL4

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

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Selected References

  1. Wang, B., Li, L., Xie, X., Wang, J., Yan, J., Mu, Y., & Ma, X. (2010). Genetic variation of SAL-Like 4 (SALL4) in ventricular septal defect. International Journal of Cardiology, 145(2), 224–226. https://doi.org/10.1016/j.ijcard.2009.05.067 DOI:10.1016/j.ijcard.2009.05.067 PMID:19619907
  2. Borozdin, W. (2004). Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum. Journal of Medical Genetics, 41(8), e102–e102. https://doi.org/10.1136/jmg.2004.019505 DOI:10.1136/jmg.2004.019505 PMID:15286162
  3. Kohlhase, J., Chitayat, D., Kotzot, D., Ceylaner, S., Froster, U. G., Fuchs, S., Montgomery, T., & Rösler, B. (2005). SALL4mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders. Human Mutation, 26(3), 176–183. https://doi.org/10.1002/humu.20215 DOI:10.1002/humu.20215 PMID:16086360