TWIST1 Chromosome 7
Twist family bHLH transcription factor 1
Upload your DNA to see your personal genotypes for variants in TWIST1.
What This Gene Does
This gene encodes a basic helix-loop-helix (bHLH) transcription factor that plays an important role in embryonic development. The encoded protein forms both homodimers and heterodimers that bind to DNA E box sequences and regulate the transcription of genes involved in cranial suture closure during skull development. This protein may also regulate neural tube closure, limb development and brown fat metabolism. This gene is hypermethylated and overexpressed in multiple human cancers, and the encoded protein promotes tumor cell invasion and metastasis, as well as metastatic recurrence. Mutations in this gene cause Saethre-Chotzen syndrome in human patients, which is characterized by craniosynostosis, ptosis and hypertelorism. [provided by RefSeq, Jul 2020]
Gene Info
Gene Group
Basic helix-loop-helix proteins
Locus Type
gene with protein product
Location
7p21.1
Ensembl
ENSG00000122691
Associated Conditions (9)
Saethre-Chotzen syndrome
TWIST1-related craniosynostosis
Inborn genetic diseases
Sweeney-Cox syndrome
TWIST1-related disorder
Robinow-Sorauf syndrome
Common craniosynostosis syndromes
Saethre-Chotzen syndrome with eyelid anomalies
Neurodevelopmental delay
Key Variants
RS1085307555
Conflicting classifications of pathogenicity
Saethre-Chotzen syndrome, TWIST1-related craniosynostosis, Saethre-Chotzen syndrome
Health Risk
RS1554441995
Conflicting classifications of pathogenicity
TWIST1-related craniosynostosis, Saethre-Chotzen syndrome, TWIST1-related craniosynostosis
Health Risk
RS1554442015
Conflicting classifications of pathogenicity
Saethre-Chotzen syndrome, Inborn genetic diseases, Saethre-Chotzen syndrome
Health Risk
RS1554442021
Conflicting classifications of pathogenicity
Saethre-Chotzen syndrome, TWIST1-related craniosynostosis, Saethre-Chotzen syndrome
Health Risk
RS1788590971
Conflicting classifications of pathogenicity
Saethre-Chotzen syndrome, TWIST1-related craniosynostosis, Sweeney-Cox syndrome
Health Risk
RS2486049688
Conflicting classifications of pathogenicity
Saethre-Chotzen syndrome, TWIST1-related craniosynostosis, Saethre-Chotzen syndrome
Health Risk
RS544465774
Conflicting classifications of pathogenicity
Sweeney-Cox syndrome, TWIST1-related craniosynostosis, Saethre-Chotzen syndrome
Health Risk
RS754552080
Conflicting classifications of pathogenicity
Saethre-Chotzen syndrome, TWIST1-related craniosynostosis, TWIST1-related disorder
Health Risk
RS757121861
Conflicting classifications of pathogenicity
TWIST1-related craniosynostosis, Saethre-Chotzen syndrome, TWIST1-related craniosynostosis
Health Risk
RS878852992
Conflicting classifications of pathogenicity
TWIST1-related craniosynostosis, Sweeney-Cox syndrome, Saethre-Chotzen syndrome
Health Risk
RS925811677
Conflicting classifications of pathogenicity
Inborn genetic diseases, Saethre-Chotzen syndrome, TWIST1-related craniosynostosis
Health Risk
RS1554441982
Likely pathogenic
TWIST1-related craniosynostosis, Saethre-Chotzen syndrome, TWIST1-related craniosynostosis
Health Risk
All Variants (86)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1585617402 | Health Risk | Pathogenic | TWIST1-related craniosynostosis, Saethre-Chotzen syndrome, TWIST1-related craniosynostosis |
| RS1585617611 | Health Risk | Pathogenic | TWIST1-related craniosynostosis, Saethre-Chotzen syndrome, TWIST1-related craniosynostosis |
| RS1585617865 | Health Risk | Pathogenic | TWIST1-related craniosynostosis, Saethre-Chotzen syndrome, TWIST1-related craniosynostosis |
| RS1788578357 | Health Risk | Pathogenic | Robinow-Sorauf syndrome, Robinow-Sorauf syndrome |
| RS1788579980 | Health Risk | Pathogenic | Saethre-Chotzen syndrome, TWIST1-related craniosynostosis, Saethre-Chotzen syndrome |
| RS1788580326 | Health Risk | Pathogenic | TWIST1-related craniosynostosis, Saethre-Chotzen syndrome, TWIST1-related craniosynostosis |
| RS1788583845 | Health Risk | Pathogenic | TWIST1-related craniosynostosis, Saethre-Chotzen syndrome, TWIST1-related craniosynostosis |
| RS2115396414 | Health Risk | Pathogenic | TWIST1-related craniosynostosis, Saethre-Chotzen syndrome, TWIST1-related craniosynostosis |
| RS2115396578 | Health Risk | Pathogenic | Saethre-Chotzen syndrome, TWIST1-related craniosynostosis, Saethre-Chotzen syndrome |
| RS2115396610 | Health Risk | Pathogenic | Saethre-Chotzen syndrome, Saethre-Chotzen syndrome |
| RS2115396671 | Health Risk | Pathogenic | Saethre-Chotzen syndrome, TWIST1-related craniosynostosis, Saethre-Chotzen syndrome |
| RS2115396763 | Health Risk | Pathogenic | Saethre-Chotzen syndrome, TWIST1-related craniosynostosis, Saethre-Chotzen syndrome |
| RS2115396782 | Health Risk | Pathogenic | Saethre-Chotzen syndrome, TWIST1-related craniosynostosis, Saethre-Chotzen syndrome |
| RS2115396985 | Health Risk | Pathogenic | Saethre-Chotzen syndrome, TWIST1-related craniosynostosis, Saethre-Chotzen syndrome |
| RS2115397200 | Health Risk | Pathogenic | — |
| RS2115397248 | Health Risk | Pathogenic | TWIST1-related craniosynostosis, Saethre-Chotzen syndrome, TWIST1-related craniosynostosis |
| RS2486049592 | Health Risk | Pathogenic | Saethre-Chotzen syndrome, TWIST1-related craniosynostosis, Saethre-Chotzen syndrome |
| RS2486049902 | Health Risk | Pathogenic | Saethre-Chotzen syndrome, TWIST1-related craniosynostosis, Saethre-Chotzen syndrome |
| RS2486049961 | Health Risk | Pathogenic | Robinow-Sorauf syndrome, Saethre-Chotzen syndrome, TWIST1-related craniosynostosis |
| RS2486049984 | Health Risk | Pathogenic | Saethre-Chotzen syndrome, Saethre-Chotzen syndrome |
| RS2486050139 | Health Risk | Pathogenic | TWIST1-related craniosynostosis, Saethre-Chotzen syndrome, TWIST1-related craniosynostosis |
| RS2486051149 | Health Risk | Pathogenic | TWIST1-related craniosynostosis, Saethre-Chotzen syndrome, TWIST1-related craniosynostosis |
| RS2486051486 | Health Risk | Pathogenic | Saethre-Chotzen syndrome, TWIST1-related craniosynostosis, Saethre-Chotzen syndrome |
| RS2486051798 | Health Risk | Pathogenic | TWIST1-related craniosynostosis, Saethre-Chotzen syndrome, TWIST1-related craniosynostosis |
| RS757253926 | Health Risk | Pathogenic | Saethre-Chotzen syndrome, TWIST1-related craniosynostosis, Saethre-Chotzen syndrome |
| RS778800284 | Health Risk | Pathogenic | Saethre-Chotzen syndrome, TWIST1-related craniosynostosis, Saethre-Chotzen syndrome |
| RS982240587 | Health Risk | Pathogenic | Saethre-Chotzen syndrome, Saethre-Chotzen syndrome |
| RS104894054 | Health Risk | Pathogenic/Likely pathogenic | Saethre-Chotzen syndrome, TWIST1-related craniosynostosis, Saethre-Chotzen syndrome |
| RS104894059 | Health Risk | Pathogenic/Likely pathogenic | Saethre-Chotzen syndrome, TWIST1-related craniosynostosis, Saethre-Chotzen syndrome |
| RS1233220987 | Health Risk | Pathogenic/Likely pathogenic | TWIST1-related craniosynostosis, Saethre-Chotzen syndrome, Saethre-Chotzen syndrome |
| RS1372603694 | Health Risk | Pathogenic/Likely pathogenic | Sweeney-Cox syndrome, Saethre-Chotzen syndrome, TWIST1-related craniosynostosis |
| RS1554442082 | Health Risk | Pathogenic/Likely pathogenic | Saethre-Chotzen syndrome, TWIST1-related craniosynostosis, Saethre-Chotzen syndrome |
| RS1563160116 | Health Risk | Pathogenic/Likely pathogenic | TWIST1-related craniosynostosis, Saethre-Chotzen syndrome, TWIST1-related craniosynostosis |
| RS1585616948 | Health Risk | Pathogenic/Likely pathogenic | Saethre-Chotzen syndrome, TWIST1-related craniosynostosis, Saethre-Chotzen syndrome |
| RS2486051311 | Health Risk | Pathogenic/Likely pathogenic | TWIST1-related craniosynostosis, Saethre-Chotzen syndrome, TWIST1-related craniosynostosis |
| RS748476974 | Health Risk | Pathogenic/Likely pathogenic | Sweeney-Cox syndrome, Saethre-Chotzen syndrome, TWIST1-related craniosynostosis |