Schinzel-Giedion syndrome: genes and variants
Schinzel-Giedion syndrome is linked to 1 analyzed protein (SETBP1). 9 DNA variants are known to cause it; 25 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 Schinzel-Giedion syndrome
SETBP1: SET-binding protein
It regulates transcription and protein-phosphatase signaling in development and hematopoiesis. Specific gain-of-function variants cause Schinzel-Giedion syndrome, somatic hotspot variants occur in aggressive myeloid neoplasms, and loss-of-function variants can cause a distinct speech and developmental disorder.
9 disease-causing and 25 uncertain variants in SETBP1 are linked to Schinzel-Giedion syndrome.
Known disease-causing variants in Schinzel-Giedion syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SETBP1 D868N | 868 | Disease-causing (★★) | |
| SETBP1 D868H | 868 | Disease-causing (★★) | |
| SETBP1 I871T | 871 | Disease-causing (★★) | |
| SETBP1 G870D | 870 | Disease-causing (★★) | |
| SETBP1 S867R | 867 | Disease-causing (★★) | |
| SETBP1 S869R | 869 | Disease-causing (★★) | |
| SETBP1 E858K | 858 | Disease-causing (★★) | |
| SETBP1 I871S | 871 | Disease-causing (★) | |
| SETBP1 D868A | 868 | Disease-causing |
Diseases related to Schinzel-Giedion syndrome
- Acute myeloid leukemia, also linked to SETBP1
- Myelodysplastic syndrome, also linked to SETBP1
- Teratoma, also linked to SETBP1
Frequently asked questions
Which genes are linked to Schinzel-Giedion syndrome?
In CATVariant, Schinzel-Giedion syndrome is linked to 1 analyzed protein: SETBP1 (SET-binding protein).
How many genetic variants are linked to Schinzel-Giedion syndrome?
57 variants: 9 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 25 are of uncertain significance or have conflicting reports.
Which uncertain variants in Schinzel-Giedion 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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