Radioulnar synostosis: genes and variants
Radioulnar synostosis is linked to 1 analyzed protein (MECOM). 4 DNA variants are known to cause it; 1 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: congenital radioulnar synostosis
Genes linked to Radioulnar synostosis
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 1 uncertain variants in MECOM are linked to Radioulnar synostosis.
Known disease-causing variants in Radioulnar synostosis
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| MECOM R960C | 960 | C2H2-type 9 | Disease-causing |
| MECOM R960H | 960 | C2H2-type 9 | Disease-causing |
| MECOM I962T | 962 | C2H2-type 9 | Disease-causing |
| MECOM Q956E | 956 | C2H2-type 9 | Disease-causing |
Same protein, different disease
- Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 is also caused by MECOM variants; they fall mostly in different places as the Radioulnar synostosis variants (5 disease-causing).
- MECOM-associated syndrome is also caused by MECOM variants; they fall mostly in different places as the Radioulnar synostosis variants (4 disease-causing).
Diseases related to Radioulnar synostosis
- Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, also linked to MECOM
Frequently asked questions
Which genes are linked to Radioulnar synostosis?
In CATVariant, Radioulnar synostosis is linked to 1 analyzed protein: MECOM (Histone-lysine N-methyltransferase MECOM).
How many genetic variants are linked to Radioulnar synostosis?
7 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 1 are of uncertain significance or have conflicting reports.
Which uncertain variants in Radioulnar synostosis 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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