Phenotypes and Genes

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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