Definition of Incomplete Penetrance

Incomplete Penetrance is a genetic phenomenon in which the disease remains asymptomatic throughout life. A patient has a disease which is the consequence of genetic mutation by during the span of his life, he does not show any considerable symptom of that particular disease. Incomplete penetrance is known to occur majorly in the disorders which are autosomal dominant.


Most of the genetic disorders exhibit the penetrance of 100 percent. A few individuals which are symptomatic show the symptoms in their adulthood. The genetic mutations that cause these diseases can be gain of function mutation, mutation n proteins, or mutations that cause haploinsufficiency. The genetic, epigenetic, and environmental factors are the main causes of incomplete penetrance.


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