hereditary thrombocytopenia and hematologic cancer predisposition syndrome
MONDO:0011071Mondo
Findings
No curated finding names hereditary thrombocytopenia and hematologic cancer predisposition syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes.
Definition from the Mondo Disease Ontology (MONDO:0011071), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RUNX1HGNC:10471
- Definitive · ClinGen · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021