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Penetrance

Definition(s)

The proportion of individuals with a mutation causing a particular disorder who exhibit clinical symptoms of that disorder; a condition (most commonly inherited in an autosomal dominant manner) is said to have complete penetrance if clinical symptoms are present in all individuals who have the disease-causing mutation, and to have reduced or incomplete penetrance if clinical symptoms are not always present in individuals who have the disease-causing mutation

Definition from: GeneReviewsThis link leads to a site outside Genetics Home Reference. from the University of Washington and the National Center for Biotechnology Information

The probability of a gene or genetic trait being expressed. "Complete" penetrance means the gene or genes for a trait are expressed in all the population who have the genes. "Incomplete" penetrance means the genetic trait is expressed in only part of the population. The percent penetrance also may change with the age range of the population.

Definition from: Human Genome Project InformationThis link leads to a site outside Genetics Home Reference. at the U.S. Department of Energy

Related discussion in the Handbook

See also Understanding Medical Terminology.

 
Published: August 24, 2015