The 'Genes and Regions' tab will provide comprehensive information about the genes and regions associated with the Copy Number Variation (CNV).
Each tile within represents either a region or a gene, displaying the number of associated conditions and publications. For each gene, the presentation will include information on whether the entire gene is missing or duplicated, or if only a portion of the gene is affected, along with details about the Inheritance mode.
If available, ClinGen Haploinsufficiency or Triplosensitivity information will be shown for each tile, along with relevant links. Additionally, the calculated LOF score, Decipher HI score, pLI, and o/e LOF (upper) will be provided. It's important to note that while Clingen LOF score information may not always be available, Franklin calculates the loss of function score based on the number of reported Pathogenic/Likely pathogenic null variants in a gene. A gene with 5 or more null P/LP reported variants is considered to have strong evidence of LOF as a disease mechanism, 2-4 variants are considered to have moderate evidence, and a single variant is considered to have limited evidence
For each gene, the corresponding associated condition(s) will be displayed on the tile, showcasing the phenotypes that match the case. In the case of large CNV variants, Gene filtration and Sorting can be utilized to streamline the process
Still have questions? Reach out to our Support Team, they'll be happy to help!