CAMT, syndromic thrombocytopenia, and other syndromic thrombocytopenias
| Subtype . | Approximate % of patients . | Chromosome location . | Gene product/locus . | Exons . |
|---|---|---|---|---|
| CAMT | ||||
| Autosomal recessive | Majority | 1p34.2 | MPL | 11 |
| TAR Autosomal recessive | Majority | 1q21.1 | RBM8A | 6 |
| Radioulnar synostosis | ? | 7p15.2 3q26.2 | HOXA11 | 2 23 |
| Autosomal dominant | — | — | MECOM* | — |
| Subtype . | Approximate % of patients . | Chromosome location . | Gene product/locus . | Exons . |
|---|---|---|---|---|
| CAMT | ||||
| Autosomal recessive | Majority | 1p34.2 | MPL | 11 |
| TAR Autosomal recessive | Majority | 1q21.1 | RBM8A | 6 |
| Radioulnar synostosis | ? | 7p15.2 3q26.2 | HOXA11 | 2 23 |
| Autosomal dominant | — | — | MECOM* | — |
MECOM (MDS1 and EVI1 Complex Locus) variants can be associated with variable hematological features ranging from isolated thrombocytopenia to global BM failure and leukemia.