mutationdefined
Mutationdefined is a term used in genetics and bioinformatics to describe a trait, phenotype, or classification that is determined by one or more specific mutations with a clearly defined molecular mechanism. The term underscores a direct link between a genetic change and the observable outcome, in contrast to traits that are polygenic, influenced by epigenetic factors, or strongly modulated by the environment.
Usage and scope: It is informal and not part of formal nomenclature. It may appear in educational
Examples: Monogenic conditions such as sickle cell disease, driven by a specific mutation in the HBB gene,
Implications: Distinguishing mutationdefined traits can aid genotype-phenotype studies, clinical variant interpretation, and targeted therapy development. Limitations
See also: monogenic trait, genotype-phenotype map, pathogenic variant, variant annotation, penetrance.