Penetrance and Expressivity

Penetrance refers to the probability of a gene or trait being expressed. In some cases, despite the presence of a dominant allele, a phenotype may not be present. One example of this is polydactyly in humans (extra fingers and/or toes). A dominant allele produces polydactyly in humans but not all humans with the allele display the extra digits. “Complete” penetrance means the gene or genes for a trait are expressed in all the population who have the genes. “Incomplete” or ‘reduced’ penetrance means the genetic trait is expressed in only part of the population. The penetrance of expression may also change in different age groups of a population. Reduced penetrance probably results from a combination of genetic, environmental, and lifestyle factors, many of which are unknown. This phenomenon can make it challenging for genetics professionals to interpret a person’s family medical history and predict the risk of passing a genetic condition to future generations.

 Complete penetrance: all six squares are dark green. Incomplete penetrance: three of the squares are dark green, and three of the squares are white. The squares in each example are intended to represent individuals of the same genotype for the gene of interest.

Illustration modeled after similar image by Steven M. Carr, Penetrance versus expressivity.

Expressivity on the other hand refers to variation in phenotypic expression when an allele is penetrant. Back to the polydactyly example, an extra digit may occur on one or more appendages. The digit can be full size or just a stub. Hence, this allele has reduced penetrance as well as variable expressivity. Variable expressivity refers to the range of signs and symptoms that can occur in different people with the same genetic condition. As with reduced penetrance, variable expressivity is probably caused by a combination of genetic, environmental, and lifestyle factors, most of which have not been identified. If a genetic condition has highly variable signs and symptoms, it may be challenging to diagnose.

 Narrow expressivity: all six squares are dark green. Variable expressivity: the six squares are various shades of green. The squares in each example are intended to represent individuals of the same genotype for the gene of interest.

Illustration modeled after similar image by Steven M. Carr, Penetrance versus expressivity.

For more information about reduced penetrance and variable expressivity take a look at the interactive tutorial on penetrance the PHG Foundation offers. The tutorial explains the differences between reduced penetrance and variable expressivity.

Variable Expressivity and Incomplete Penetrance