Imagawa-Matsumoto syndrome: genes and variants
Imagawa-Matsumoto syndrome is linked to 1 analyzed protein (SUZ12). 4 DNA variants are known to cause it; 6 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 Imagawa-Matsumoto syndrome
SUZ12: Polycomb protein SUZ12
Within Polycomb repressive complex 2, it helps establish H3K27 methylation-dependent gene silencing. Somatic loss or fusion events occur in several cancers, and germline pathogenic variants can cause overgrowth and neurodevelopmental syndromes.
4 disease-causing and 6 uncertain variants in SUZ12 are linked to Imagawa-Matsumoto syndrome.
Known disease-causing variants in Imagawa-Matsumoto syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SUZ12 L660P | 660 | Disease-causing (★) | |
| SUZ12 S350F | 350 | Interaction with AEBP2 and PHF19 | Disease-causing (★) |
| SUZ12 F603L | 603 | VEFS-box | Disease-causing |
| SUZ12 E610V | 610 | VEFS-box | Disease-causing |
Frequently asked questions
Which genes are linked to Imagawa-Matsumoto syndrome?
In CATVariant, Imagawa-Matsumoto syndrome is linked to 1 analyzed protein: SUZ12 (Polycomb protein SUZ12).
How many genetic variants are linked to Imagawa-Matsumoto syndrome?
18 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 6 are of uncertain significance or have conflicting reports.
Which uncertain variants in Imagawa-Matsumoto 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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