A phenotype is the collection of observable or measurable traits of an individual. Phenotypes that result from changes (i.e., variants) in a single gene (i.e., monogenic) and that can be transmitted from parents to offspring in Mendelian patterns, such as autosomal dominant, autosomal recessive, X-linked, are known as Mendelian phenotypes.
What is known about the genomic basis of Mendelian phenotypes?
 |
64% (5,048/7,926) is the fraction of Mendelian phenotypes for which the underlying gene is known. |
|---|---|
 |
18% (3,553/19,580) of human genes are known to underlie a Mendelian phenotype. |
 |
24% (856/3,553) of genes known to underlie a Mendelian phenotype cause two or more different phenotypes. |
Counts are based on calculations by the Genome Sequencing Program Coordinating Center using data extracted from OMIM (www.omim.org) on September-16-2018.
