HES7 Chromosome 17
Hes family bHLH transcription factor 7
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What This Gene Does
This gene encodes a member of the hairy and enhancer of split family of bHLH transcription factors. The mouse ortholog of this gene is regulated by Notch signaling. The protein functions as a transcriptional repressor, and is implicated in correct patterning of the axial skeleton. A mutation in this gene has been shown to result in spondylocostal dysostosis. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Gene Info
Gene Group
Basic helix-loop-helix proteins
Locus Type
gene with protein product
Location
17p13.1
Ensembl
ENSG00000179111
Associated Conditions (5)
HES7-related disorder
Inborn genetic diseases
Spondylocostal dysostosis 4
autosomal recessive
Spondylocostal dysostosis 2
Key Variants
RS200833034
Conflicting classifications of pathogenicity
HES7-related disorder, HES7-related disorder
Health Risk
RS201278621
Conflicting classifications of pathogenicity
HES7-related disorder, Inborn genetic diseases, HES7-related disorder
Health Risk
RS558811781
Conflicting classifications of pathogenicity
HES7-related disorder, HES7-related disorder
Health Risk
RS987042061
Conflicting classifications of pathogenicity
Health Risk
RS1332109041
Likely pathogenic
Spondylocostal dysostosis 4, autosomal recessive, Spondylocostal dysostosis 4
Health Risk
RS2507863332
Likely pathogenic
Spondylocostal dysostosis 4, autosomal recessive, Spondylocostal dysostosis 4
Health Risk
RS398122970
Likely pathogenic
Spondylocostal dysostosis 4, autosomal recessive, Spondylocostal dysostosis 4
Health Risk
RS113994160
Pathogenic
Spondylocostal dysostosis 4, autosomal recessive, Spondylocostal dysostosis 2
Health Risk
RS387906978
Pathogenic
Spondylocostal dysostosis 4, autosomal recessive, Spondylocostal dysostosis 4
Health Risk
RS387906979
Pathogenic
Spondylocostal dysostosis 4, autosomal recessive, Spondylocostal dysostosis 4
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200833034 | Health Risk | Conflicting classifications of pathogenicity | HES7-related disorder, HES7-related disorder |
| RS201278621 | Health Risk | Conflicting classifications of pathogenicity | HES7-related disorder, Inborn genetic diseases, HES7-related disorder |
| RS558811781 | Health Risk | Conflicting classifications of pathogenicity | HES7-related disorder, HES7-related disorder |
| RS987042061 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1332109041 | Health Risk | Likely pathogenic | Spondylocostal dysostosis 4, autosomal recessive, Spondylocostal dysostosis 4 |
| RS2507863332 | Health Risk | Likely pathogenic | Spondylocostal dysostosis 4, autosomal recessive, Spondylocostal dysostosis 4 |
| RS398122970 | Health Risk | Likely pathogenic | Spondylocostal dysostosis 4, autosomal recessive, Spondylocostal dysostosis 4 |
| RS113994160 | Health Risk | Pathogenic | Spondylocostal dysostosis 4, autosomal recessive, Spondylocostal dysostosis 2 |
| RS387906978 | Health Risk | Pathogenic | Spondylocostal dysostosis 4, autosomal recessive, Spondylocostal dysostosis 4 |
| RS387906979 | Health Risk | Pathogenic | Spondylocostal dysostosis 4, autosomal recessive, Spondylocostal dysostosis 4 |