SAMD9L-related spectrum and myeloid neoplasm risk
MONDO:1060111Mondo
Findings
No curated finding names SAMD9L-related spectrum and myeloid neoplasm risk yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A susceptibility or predisposition to myeloid neoplasms in which the cause of the disease is a mutation in the SAMD9L gene. This condition is characterized by variable presentations of ataxia and cytopenia, myelodysplastic syndrome, monosomy 7 (acute myelogenous leukemia), and bone marrow failure.
Definition from the Mondo Disease Ontology (MONDO:1060111), 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.
- SAMD9LHGNC:1349
- Definitive · ClinGen · Autosomal dominant · 2025
Where it sits
- A kind of