Mendelian Traits by the Numbers

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?

63% (4,873/7,795)

is the fraction of Mendelian phenotypes for which the underlying gene is known.

17% (3,426/19,580)

of human genes are known to underlie a Mendelian phenotype.

24% (821/3,426)

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 November-13-2017.