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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: GeneTests from the University of Washington and the National Center for Biotechnology Information
A term indicating the likelihood that a given gene will actually result in disease.: Definition from: Office of Rare Diseases at the National Institutes of Health
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 Information at the U.S. Department of Energy


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