SALL4 Chromosome 20
Spalt like transcription factor 4
Upload your DNA to see your personal genotypes for variants in SALL4.
What This Gene Does
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]
Gene Info
Gene Group
Zinc fingers C2H2-type
Locus Type
gene with protein product
Location
20q13.2
Ensembl
ENSG00000101115
Associated Conditions (5)
Duane-radial ray syndrome
Inborn genetic diseases
Oculootoradial syndrome
SALL4-related disorder
Familial cancer of breast
Key Variants
RS111502708
Conflicting classifications of pathogenicity
Duane-radial ray syndrome, Inborn genetic diseases, Oculootoradial syndrome
Health Risk
RS113920122
Conflicting classifications of pathogenicity
Duane-radial ray syndrome, Inborn genetic diseases, SALL4-related disorder
Health Risk
RS138604469
Conflicting classifications of pathogenicity
Duane-radial ray syndrome, Duane-radial ray syndrome
Health Risk
RS138891224
Conflicting classifications of pathogenicity
Duane-radial ray syndrome, Duane-radial ray syndrome, Oculootoradial syndrome
Health Risk
RS139382539
Conflicting classifications of pathogenicity
Duane-radial ray syndrome, SALL4-related disorder, Duane-radial ray syndrome
Health Risk
RS142325001
Conflicting classifications of pathogenicity
Duane-radial ray syndrome, Duane-radial ray syndrome
Health Risk
RS142551587
Conflicting classifications of pathogenicity
Duane-radial ray syndrome, Duane-radial ray syndrome
Health Risk
RS142790611
Conflicting classifications of pathogenicity
Duane-radial ray syndrome, Duane-radial ray syndrome
Health Risk
RS143601538
Conflicting classifications of pathogenicity
Duane-radial ray syndrome, Duane-radial ray syndrome
Health Risk
RS143818932
Conflicting classifications of pathogenicity
Duane-radial ray syndrome, SALL4-related disorder, Duane-radial ray syndrome
Health Risk
RS145275500
Conflicting classifications of pathogenicity
Duane-radial ray syndrome, Familial cancer of breast, Inborn genetic diseases
Health Risk
RS146143890
Conflicting classifications of pathogenicity
Duane-radial ray syndrome, Duane-radial ray syndrome
Health Risk
All Variants (76)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1601170799 | Health Risk | Pathogenic | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS1601171949 | Health Risk | Pathogenic | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS2078031226 | Health Risk | Pathogenic | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS2078032400 | Health Risk | Pathogenic | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS2078047390 | Health Risk | Pathogenic | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS2122962507 | Health Risk | Pathogenic | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS2122963183 | Health Risk | Pathogenic | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS2122964551 | Health Risk | Pathogenic | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS2122965458 | Health Risk | Pathogenic | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS2515714649 | Health Risk | Pathogenic | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS2515714702 | Health Risk | Pathogenic | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS2515714934 | Health Risk | Pathogenic | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS2515714969 | Health Risk | Pathogenic | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS2515715730 | Health Risk | Pathogenic | — |
| RS2515716088 | Health Risk | Pathogenic | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS2515716795 | Health Risk | Pathogenic | Duane-radial ray syndrome, SALL4-related disorder, Duane-radial ray syndrome |
| RS2515718577 | Health Risk | Pathogenic | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS35471036 | Health Risk | Pathogenic | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS74315424 | Health Risk | Pathogenic | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS74315426 | Health Risk | Pathogenic | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS74315427 | Health Risk | Pathogenic | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS74315429 | Health Risk | Pathogenic | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS797044509 | Health Risk | Pathogenic | — |
| RS879255537 | Health Risk | Pathogenic | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS1568866374 | Health Risk | Pathogenic/Likely pathogenic | Oculootoradial syndrome, Duane-radial ray syndrome, Oculootoradial syndrome |
| RS74315425 | Health Risk | Pathogenic/Likely pathogenic | Duane-radial ray syndrome, Duane-radial ray syndrome |