MECOM-associated syndrome: genes and variants
MECOM-associated syndrome is linked to 1 analyzed protein (MECOM). 4 DNA variants are known to cause it; 0 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 MECOM-associated syndrome
MECOM: Histone-lysine N-methyltransferase MECOM
Its EVI1-containing transcriptional programs regulate hematopoietic stem-cell self-renewal and differentiation. Rearrangement or overexpression is a potent adverse-risk driver in myeloid malignancies, while germline variants can cause congenital bone-marrow failure and developmental syndromes.
4 disease-causing and 0 uncertain variants in MECOM are linked to MECOM-associated syndrome.
Known disease-causing variants in MECOM-associated syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| MECOM R929Q | 929 | C2H2-type 8 | Disease-causing (★★) |
| MECOM R929W | 929 | C2H2-type 8 | Disease-causing (★★) |
| MECOM T821I | 821 | Disease-causing (★★) | |
| MECOM R393H | 393 | C2H2-type 6 | Disease-causing (★) |
Same protein, different disease
- Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 is also caused by MECOM variants; they fall partly in the same places as the MECOM-associated syndrome variants (5 disease-causing).
- Radioulnar synostosis is also caused by MECOM variants; they fall mostly in different places as the MECOM-associated syndrome variants (4 disease-causing).
Diseases related to MECOM-associated syndrome
- Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, also linked to MECOM
- Radioulnar synostosis, also linked to MECOM
Frequently asked questions
Which genes are linked to MECOM-associated syndrome?
In CATVariant, MECOM-associated syndrome is linked to 1 analyzed protein: MECOM (Histone-lysine N-methyltransferase MECOM).
How many genetic variants are linked to MECOM-associated syndrome?
4 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 0 are of uncertain significance or have conflicting reports.
Which uncertain variants in MECOM-associated 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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