Curry-Jones syndrome: genes and variants
Curry-Jones syndrome is linked to 1 analyzed protein (SMO). 1 DNA variants are known to cause it; 4 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 Curry-Jones syndrome
SMO: Protein smoothened
It transmits Hedgehog signals across the membrane after inhibition by PTCH1 is relieved, activating GLI-dependent developmental transcription. Activating variants or upstream pathway loss can drive basal-cell carcinoma, medulloblastoma, and other Hedgehog-dependent tumors.
1 disease-causing and 4 uncertain variants in SMO are linked to Curry-Jones syndrome.
Known disease-causing variants in Curry-Jones syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SMO L412F | 412 | Transmembrane | Disease-causing (★) |
Same protein, different disease
- Congenital hypothalamic hamartoma syndrome is also caused by SMO variants; they fall mostly in different places as the Curry-Jones syndrome variants (6 disease-causing).
Diseases related to Curry-Jones syndrome
- Acute myeloid leukemia, also linked to SMO
- Congenital hypothalamic hamartoma syndrome, also linked to SMO
- Medulloblastoma, also linked to SMO
- Basal cell carcinoma, also linked to SMO
Frequently asked questions
Which genes are linked to Curry-Jones syndrome?
In CATVariant, Curry-Jones syndrome is linked to 1 analyzed protein: SMO (Protein smoothened).
How many genetic variants are linked to Curry-Jones syndrome?
5 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 4 are of uncertain significance or have conflicting reports.
Which uncertain variants in Curry-Jones 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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