penetrance
thumb|Illustration of the degree of penetrance Penetrance in genetics is the proportion of individuals carrying a particular variant (or allele) of a gene (genotype) that also expresses an associated trait (phenotype). In medical genetics, the penetrance of a disease-causing mutation is the proportion of individuals with the mutation that exhibit clinical symptoms among all individuals with such mutation. For example: If a mutation in the gene responsible for a particular autosomal dominant disorder has 95% penetrance, then 95% of those with the mutation will go on to develop the disease, show
Research
22,291 papers- The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.American journal of human genetics · 2023
- A systematic review and pooled analysis of penetrance estimates of copy-number variants associated with neurodevelopment.Genetics in medicine : official journal of the American College of Medical Genetics · 2025
- Meta-Analysis of Penetrance and Systematic Review on Transition to Disease in Genetic Hypertrophic Cardiomyopathy.Circulation · 2024
- Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.American journal of human genetics · 2022
- Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.Genetics in medicine : official journal of the American College of Medical Genetics · 2024
via PubMed
Article
15 sectionsContents
- Degrees of penetrance
- Complete penetrance
- Reduced penetrance
- Factors affecting penetrance
- Age-dependent penetrance
- Gender-related penetrance
- Genetic modifiers
- Environmental modifiers
- Epigenetic regulation
- Determining penetrance
- Ascertainment bias
- Phenocopies
- See also
- References
- External links
thumb|Illustration of the degree of penetrance Penetrance in genetics is the proportion of individuals carrying a particular variant (or allele) of a gene (genotype) that also expresses an associated trait (phenotype). In medical genetics, the penetrance of a disease-causing mutation is the proportion of individuals with the mutation that exhibit clinical symptoms among all individuals with such mutation. For example: If a mutation in the gene responsible for a particular autosomal dominant disorder has 95% penetrance, then 95% of those with the mutation will go on to develop the disease, showing its phenotype, whereas 5% will not. thumb|Illustration of different degrees of penetrance and variable expressivity Penetrance only refers to whether an individual with a specific genotype exhibits any phenotypic signs or symptoms, and is not to be confused with variable expressivity which is to what extent or degree the symptoms for the disease are shown (the expression of the phenotypic trait). Meaning that, even if the same disease-causing mutation affects separate individuals, the expressivity will vary.
== Degrees of penetrance ==