Radioulnar synostosis with amegakaryocytic thrombocytopenia 2: genes and variants
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 is linked to 1 analyzed protein (MECOM). 5 DNA variants are known to cause it; 18 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1
Genes linked to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
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.
5 disease-causing and 18 uncertain variants in MECOM are linked to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2.
Known disease-causing variants in Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| MECOM R929W | 929 | C2H2-type 8 | Disease-causing (★★) |
| MECOM T821A | 821 | Disease-causing | |
| MECOM H930R | 930 | C2H2-type 8 | Disease-causing |
| MECOM T935A | 935 | Disease-causing | |
| MECOM R941T | 941 | C2H2-type 9 | Disease-causing |
Same protein, different disease
- MECOM-associated syndrome is also caused by MECOM variants; they fall partly in the same places as the Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 variants (4 disease-causing).
- Radioulnar synostosis is also caused by MECOM variants; they fall mostly in different places as the Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 variants (4 disease-causing).
Diseases related to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
- Radioulnar synostosis, also linked to MECOM
Frequently asked questions
Which genes are linked to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2?
In CATVariant, Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 is linked to 1 analyzed protein: MECOM (Histone-lysine N-methyltransferase MECOM).
How many genetic variants are linked to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2?
29 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 18 are of uncertain significance or have conflicting reports.
Which uncertain variants in Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 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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