Clinical validity classifications of 24 gene-disease pairs associated with syndromic or isolated hereditary colorectal cancer and/or polyposis susceptibility. Consensus genetic and experimental evidence scores are depicted for each gene:disease relationship wherein a Limited preliminary classification scored 0.1-6 total points, a Moderate preliminary classification had 7-11 total points, a Strong preliminary classification scored 12-18 total points, and a Definitive classification scored 12-18 total points and achieved replication over time (indicated by r/t).
Gene:disease pairs associated with syndromic hereditary colorectal cancer and/or polyposis are indicated by dotted black and grey bars for genetic and experimental evidence, respectively. Gene:disease pairs associated with isolated hereditary colorectal cancer and/or polyposis are indicated by solid black and grey bars for genetic and experimental evidence, respectively.