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A measure of the association between a variant or group of similar variants and a particular pattern of phenotypic features.

Use in clinical context

Knowledge of genotype-phenotype correlations can contribute to our understanding of the pathogenesis, clinical manifestations, prognosis and treatment response for many genetic conditions and cancers, particularly when there is a strong correlation.

For example, genotype-phenotype correlations can be used to predict the risk of aggressive thyroid cancer in multiple endocrine neoplasia type 2 (MEN2), a tumour predisposition syndrome caused by several different variants in the RET gene. Variants are grouped into different risk categories, each with specific management advice.

Related terms

Genotype | Phenotype | Variant

Last updated on 15th August, 2023