SALL4 spalt like transcription factor 4
Gene info
Synonyms
dJ1112F19.1, ZNF797
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
Heterozygous null mouse has CHD
MGI ID
Variant info
Clinvar
Selected variant
The Clinvar variants presented in the below IGV track were selected based on the following criteria.
- Variant types are single nucleotide variant or Indel
- Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
- ClinVar review status for the variant is criteria provided
Download annotation file for SALL4: BED file
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Selected References
- 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. DOI:10.1016/j.ijcard.2009.05.067 PMID:19619907
- 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. DOI:10.1136/jmg.2004.019505
- Kohlhase, J., Chitayat, D., Kotzot, D., Ceylaner, S., Froster, U. G., Fuchs, S., … Rösler, B. (2005). SALL4mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders. Human Mutation, 26(3), 176–183. DOI:10.1002/humu.20215