SOX18 Chromosome 20
SRY-box transcription factor 18
Upload your DNA to see your personal genotypes for variants in SOX18.
What This Gene Does
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. This protein plays a role in hair, blood vessel, and lymphatic vessel development. Mutations in this gene have been associated with recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
SRY-box transcription factors
Locus Type
gene with protein product
Location
20q13.33
Ensembl
ENSG00000203883
Associated Conditions (4)
Inborn genetic diseases
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Hypotrichosis-lymphedema-telangiectasia syndrome
Bladder exstrophy-epispadias-cloacal extrophy complex
Key Variants
RS1283939201
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, Hypotrichosis-lymphedema-telangiectasia syndrome
Health Risk
RS1305630681
Conflicting classifications of pathogenicity
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, Hypotrichosis-lymphedema-telangiectasia syndrome, Inborn genetic diseases
Health Risk
RS568711898
Conflicting classifications of pathogenicity
Bladder exstrophy-epispadias-cloacal extrophy complex, Bladder exstrophy-epispadias-cloacal extrophy complex
Health Risk
RS751301709
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hypotrichosis-lymphedema-telangiectasia syndrome, Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Health Risk
RS761449443
Conflicting classifications of pathogenicity
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, Hypotrichosis-lymphedema-telangiectasia syndrome, Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Health Risk
RS2145417422
Likely pathogenic
Health Risk
RS74315430
Likely pathogenic
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Health Risk
RS1210062863
Pathogenic
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Health Risk
RS28936692
Pathogenic
Hypotrichosis-lymphedema-telangiectasia syndrome, Hypotrichosis-lymphedema-telangiectasia syndrome
Health Risk
RS28936693
Pathogenic
Hypotrichosis-lymphedema-telangiectasia syndrome, Hypotrichosis-lymphedema-telangiectasia syndrome
Health Risk
RS794728015
Pathogenic/Likely pathogenic
Hypotrichosis-lymphedema-telangiectasia syndrome, Hypotrichosis-lymphedema-telangiectasia syndrome
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1283939201 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, Hypotrichosis-lymphedema-telangiectasia syndrome |
| RS1305630681 | Health Risk | Conflicting classifications of pathogenicity | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, Hypotrichosis-lymphedema-telangiectasia syndrome, Inborn genetic diseases |
| RS568711898 | Health Risk | Conflicting classifications of pathogenicity | Bladder exstrophy-epispadias-cloacal extrophy complex, Bladder exstrophy-epispadias-cloacal extrophy complex |
| RS751301709 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hypotrichosis-lymphedema-telangiectasia syndrome, Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome |
| RS761449443 | Health Risk | Conflicting classifications of pathogenicity | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, Hypotrichosis-lymphedema-telangiectasia syndrome, Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome |
| RS2145417422 | Health Risk | Likely pathogenic | — |
| RS74315430 | Health Risk | Likely pathogenic | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome |
| RS1210062863 | Health Risk | Pathogenic | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome |
| RS28936692 | Health Risk | Pathogenic | Hypotrichosis-lymphedema-telangiectasia syndrome, Hypotrichosis-lymphedema-telangiectasia syndrome |
| RS28936693 | Health Risk | Pathogenic | Hypotrichosis-lymphedema-telangiectasia syndrome, Hypotrichosis-lymphedema-telangiectasia syndrome |
| RS794728015 | Health Risk | Pathogenic/Likely pathogenic | Hypotrichosis-lymphedema-telangiectasia syndrome, Hypotrichosis-lymphedema-telangiectasia syndrome |