penetrance

     

Penetrance is a term use in genetics describing the proportion of individuals carrying a particular variation of a gene (an allele or genotype) that also express a particular trait (the phenotype). For example, known mutations in the gene responsible for Huntington disease have 95% penetrance, whereby 5% of those with the dominant allele for Huntington disease don't develop the disease and 95% do. In other word, penetrance is the percentage of individuals with a specific genotype that possess an associated phenotype. For example, if 50% of the individuals carrying the "blue" allele are blue, the "blue" allele has 50% penetrance. Penetrance only considers whether individuals express the trait or not — for variation in the degree of expression of a given trait, see expressivity.

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  • "Pénétrance" et "Pénétransie" Bernil de Vendia
  • @TABSorg so what are latest Q's that TABS is exploring? #TABSchat The relative lack of penetrance of social media for PD in faculty? ;-)
  • RT @ksenapathy: "Every one of us has variants that would terrify us if we knew." -Dr. Roden (Maybe better not to know, low penetrance save …
  • "Every one of us has variants that would terrify us if we knew." -Dr. Roden (Maybe better not to know, low penetrance save some?) #CIMCon14
  • RT @ksenapathy: Communicating low penetrance is challenging in prenatal setting -Dr. Bianchi #CIMCon14
  • What are the penetrance and the expressivity of a gene?
  • .@tuuliel: BUT allelic imbalance of coding variants also effects penetrance => new phenotype. See
  • Communicating low penetrance is challenging in prenatal setting -Dr. Bianchi #CIMCon14
  • RT @QuizMeBio: T/F: Incomplete penetrance means when the domenant allele of a trait is not expressed in a heterozygote ... https://t.co/XwF…