Ulnar-mammary syndrome: genes and variants
Ulnar-mammary syndrome is linked to 1 analyzed protein (TBX3). 2 DNA variants are known to cause it; 45 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Ulnar-mammary syndrome
TBX3: T-box transcription factor TBX3
It represses and activates developmental gene programs involved in limb, mammary, genital, and cardiac conduction-system formation. Haploinsufficiency causes ulnar-mammary syndrome, while abnormal expression can contribute to cancer-cell plasticity and invasion.
2 disease-causing and 45 uncertain variants in TBX3 are linked to Ulnar-mammary syndrome.
Known disease-causing variants in Ulnar-mammary syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| TBX3 W113G | 113 | T-box | Disease-causing (★) |
| TBX3 P134A | 134 | T-box | Disease-causing (★) |
Frequently asked questions
Which genes are linked to Ulnar-mammary syndrome?
In CATVariant, Ulnar-mammary syndrome is linked to 1 analyzed protein: TBX3 (T-box transcription factor TBX3).
How many genetic variants are linked to Ulnar-mammary syndrome?
64 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 45 are of uncertain significance or have conflicting reports.
Which uncertain variants in Ulnar-mammary syndrome look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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