Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1: genes and variants
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 is linked to 1 analyzed protein (RUNX1). 3 DNA variants are known to cause it; 37 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 Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
RUNX1: Runt-related transcription factor 1
It controls hematopoietic stem-cell emergence and later megakaryocytic and myeloid differentiation through lineage-specific transcriptional programs. Germline loss-of-function variants cause familial platelet disorder with myeloid malignancy predisposition, while somatic mutations and fusions are common in leukemia.
3 disease-causing and 37 uncertain variants in RUNX1 are linked to Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1.
Known disease-causing variants in Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| RUNX1 H78P | 78 | Runt | Disease-causing (★★★) |
| RUNX1 R142I | 142 | Runt | Disease-causing (★★★) |
| RUNX1 S67R | 67 | Runt | Disease-causing (★★★) |
Same protein, different disease
- Hereditary thrombocytopenia and hematologic cancer predisposition syndrome is also caused by RUNX1 variants; they fall partly in the same places as the Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 variants (39 disease-causing).
Diseases related to Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
- Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, also linked to RUNX1
- Acute myeloid leukemia, also linked to RUNX1
Frequently asked questions
Which genes are linked to Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1?
In CATVariant, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 is linked to 1 analyzed protein: RUNX1 (Runt-related transcription factor 1).
How many genetic variants are linked to Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1?
66 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 37 are of uncertain significance or have conflicting reports.
Which uncertain variants in Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 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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