SALL4 spalt like transcription factor 4
Gene ID: 57167, updated on 2-Nov-2024Gene type: protein coding
Also known as: DRRS; IVIC; HSAL4; ZNF797
- See all available tests in GTR for this gene
- Go to complete Gene record for SALL4
- Go to Variation Viewer for SALL4 variants
Summary
This gene encodes a zinc finger transcription factor thought to play a role in the development of abducens motor neurons. Defects in this gene are a cause of Duane-radial ray syndrome (DRRS). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD. GeneReviews: Not available | |
| Duane-radial ray syndrome | not available |
| Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia. GeneReviews: Not available | |
| Oculootoradial syndrome | not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2021-01-11) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-01-11) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 20q13.2
- Sequence:
- Chromosome: 20; NC_000020.11 (51782331..51802521, complement)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SALL4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SALL4 database
- Variation ViewerRelated Variants
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