"Penetrance" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
The percent frequency with which a dominant or homozygous recessive gene or gene combination manifests itself in the phenotype of the carriers. (From Glossary of Genetics, 5th ed)
| Descriptor ID |
D019683
|
| MeSH Number(s) |
G05.420.655 G05.695.650
|
| Concept/Terms |
|
Below are MeSH descriptors whose meaning is more general than "Penetrance".
Below are MeSH descriptors whose meaning is more specific than "Penetrance".
This graph shows the total number of publications written about "Penetrance" by people in this website by year, and whether "Penetrance" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2000 | 0 | 3 | 3 |
| 2002 | 0 | 3 | 3 |
| 2003 | 1 | 1 | 2 |
| 2004 | 1 | 0 | 1 |
| 2005 | 2 | 2 | 4 |
| 2006 | 2 | 0 | 2 |
| 2007 | 1 | 2 | 3 |
| 2008 | 0 | 2 | 2 |
| 2009 | 1 | 1 | 2 |
| 2010 | 0 | 1 | 1 |
| 2011 | 1 | 1 | 2 |
| 2012 | 0 | 3 | 3 |
| 2013 | 1 | 1 | 2 |
| 2014 | 1 | 1 | 2 |
| 2015 | 0 | 4 | 4 |
| 2016 | 0 | 4 | 4 |
| 2017 | 2 | 1 | 3 |
| 2018 | 0 | 3 | 3 |
| 2019 | 2 | 3 | 5 |
| 2020 | 3 | 5 | 8 |
| 2021 | 0 | 3 | 3 |
| 2022 | 0 | 2 | 2 |
| 2023 | 0 | 3 | 3 |
| 2024 | 0 | 1 | 1 |
| 2025 | 3 | 0 | 3 |
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Below are the most recent publications written about "Penetrance" by people in Profiles.
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Clinical manifestations, disease penetrance, and treatment in individuals with SOCS1 insufficiency: a registry-based and population-based study. Lancet Rheumatol. 2025 Jun; 7(6):e391-e402.
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The common HAQ STING allele prevents clinical penetrance of COPA syndrome. J Exp Med. 2025 Apr 07; 222(4).
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Monoallelic expression can govern penetrance of inborn errors of immunity. Nature. 2025 Jan; 637(8048):1186-1197.
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Detection of distant relatedness in biobanks to identify undiagnosed cases of Mendelian disease as applied to Long QT syndrome. Nat Commun. 2024 Aug 29; 15(1):7507.
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Risk of meningomyelocele mediated by the common 22q11.2 deletion. Science. 2024 05 03; 384(6695):584-590.
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Hereditary Breast Cancer: BRCA Mutations and Beyond. Radiol Clin North Am. 2024 Jul; 62(4):627-642.
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Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants. Genetics. 2023 08 09; 224(4).
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Update of penetrance estimates in Birt-Hogg-Dub? syndrome. J Med Genet. 2023 04; 60(4):317-326.
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Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results. Circ Genom Precis Med. 2023 04; 16(2):e003816.
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Penetrance of Gastric Adenocarcinoma Susceptibility Genes: A Systematic Review. Ann Surg Oncol. 2023 Mar; 30(3):1795-1807.