Compendium of causative genes and their encoded proteins for common monogenic disorders.

ABSTRACT: A compendium is presented of inherited monogenic disorders that have a prevalence of >1:20,000 in the human population, along with their causative genes and encoded proteins. "Simple" monogenic diseases are those for which the clinical features are caused by mutations impacting a single gene, usually in a manner that alters the sequence of the encoded protein. Of course, for a given "monogenic disorder", there is sometimes more than one potential disease gene, mutations in any one of which is sufficient to cause phenotypes of that disorder. Disease-causing mutations for monogenic disorders are usually passed on from generation to generation in a Mendelian fashion, and originate from spontaneous (de novo) germline founder mutations. In the past monogenic disorders have often been written of

SUBMITTER: Apgar TL 

PROVIDER: S-EPMC8740837 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature