TBX15 Chromosome 1
T-box transcription factor 15
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What This Gene Does
This gene belongs to the T-box family of genes, which encode a phylogenetically conserved family of transcription factors that regulate a variety of developmental processes. All these genes contain a common T-box DNA-binding domain. Mutations in this gene are associated with Cousin syndrome.[provided by RefSeq, Oct 2009]
Gene Info
Gene Group
T-box transcription factors
Locus Type
gene with protein product
Location
1p12
Ensembl
ENSG00000092607
Associated Conditions (2)
TBX15-related disorder
Pelviscapular dysplasia
Key Variants
RS144291418
Conflicting classifications of pathogenicity
TBX15-related disorder, Pelviscapular dysplasia, TBX15-related disorder
Health Risk
RS200564235
Conflicting classifications of pathogenicity
Health Risk
RS1571155763
Likely pathogenic
Health Risk
RS1655113495
Pathogenic
Health Risk
RS2101422164
Pathogenic
Pelviscapular dysplasia, Pelviscapular dysplasia
Health Risk
RS2101422204
Pathogenic
Pelviscapular dysplasia, Pelviscapular dysplasia
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144291418 | Health Risk | Conflicting classifications of pathogenicity | TBX15-related disorder, Pelviscapular dysplasia, TBX15-related disorder |
| RS200564235 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1571155763 | Health Risk | Likely pathogenic | — |
| RS1655113495 | Health Risk | Pathogenic | — |
| RS2101422164 | Health Risk | Pathogenic | Pelviscapular dysplasia, Pelviscapular dysplasia |
| RS2101422204 | Health Risk | Pathogenic | Pelviscapular dysplasia, Pelviscapular dysplasia |