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?
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68% (5,908/8,705) is the fraction of Mendelian phenotypes for which the underlying gene is known. |
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22% (4,213/19,580) of human genes are known to underlie a Mendelian phenotype. |
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24% (1,012/4,213) 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 April-7-2022
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