Cohen-Gibson syndrome: genes and variants
Cohen-Gibson syndrome is linked to 1 analyzed protein (EED). 8 DNA variants are known to cause it; 16 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 Cohen-Gibson syndrome
EED: Polycomb protein EED
Within Polycomb repressive complex 2, it recognizes H3K27 methylation to reinforce transcriptional silencing across chromatin. Germline pathogenic variants can cause Cohen-Gibson-like overgrowth phenotypes, while somatic alterations contribute to cancer.
8 disease-causing and 16 uncertain variants in EED are linked to Cohen-Gibson syndrome.
Where Cohen-Gibson syndrome variants cluster
- EED Required for interaction with the matrix protein (positions 301–441): 5 of 8 disease-causing changes, 1.9× more than its size predicts.
- EED Required for interaction with the matrix protein (positions 149–303): 5 of 8 disease-causing changes, 1.8× more than its size predicts.
Known disease-causing variants in Cohen-Gibson syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| EED N194S | 194 | WD 3 | Disease-causing (★★) |
| EED R302S | 302 | Required for interaction with the matrix protein | Disease-causing (★) |
| EED M366T | 366 | WD 6 | Disease-causing (★) |
| EED Y308C | 308 | WD 5 | Disease-causing (★) |
| EED A378V | 378 | WD 6 | Disease-causing (★) |
| EED R302G | 302 | Required for interaction with the matrix protein | Disease-causing |
| EED R236T | 236 | WD 4 | Disease-causing |
| EED H258Y | 258 | WD 4 | Disease-causing |
Frequently asked questions
Which genes are linked to Cohen-Gibson syndrome?
In CATVariant, Cohen-Gibson syndrome is linked to 1 analyzed protein: EED (Polycomb protein EED).
How many genetic variants are linked to Cohen-Gibson syndrome?
35 variants: 8 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 16 are of uncertain significance or have conflicting reports.
Which uncertain variants in Cohen-Gibson 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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