This table shows phenotypes studied by the Centers for Mendelian Genetics. OMIM IDs are listed where matches have been identified, as are associated genes that have met either the Tier 1 or Tier 2 levels of evidence. Mutations in Tier 1 genes: a) have been identified in multiple kindreds; or b) are included in a genome-wide significant linkage analysis peak and there must be experimental proof both that the mutation(s) perturb protein function and that the protein plays a role in an affected pathway; or c) the phenotype has been recapitulated in a model organism. Tier 2 genes are considered strong candidates but do not meet strict/gold standard solve criteria, likely because there is only one kindred with a mutation in these genes. PMIDs of publications about each gene discovery to which the CMGs contributed are also included.
This table can be sorted by clicking on the column headers.
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