Curating genes at 20p13 to identify candidate genes for terminal microdeletions

Purpose: Microdeletions are well-known drivers of genetic disorders. Generally, a few genes are identified as driver genes for the observed phenotypes in microdeletion carriers. In this study, we interrogated the 20p13 terminal region to identify candidate gene(s) primarily for the neurodevelopmental disorders in individuals with 20p13 terminal microdeletions.Materials and methods: Publicly available information on gene functions, gene expressions, gene-disease relationships, and populational genomic data are used to identify genes within the terminal 2.5 Mb region of 20p13 that are tolerant or intolerant to deletions and loss-of-function variants.Results: CSNK2A1 has the highest intolerance metrics to both deletion and loss-of-function variation among the 40 protein-coding genes within the terminal 2.5 Mb at 20p13, followed by SNPH when the rest of the genes are also evaluated by their gene functions and expression patterns.Conclusion: We propose that CSNK2A1 is the main driver gene for the neurodevelopmental disorder/intellectual disability phenotypes in individuals with microdeletions encompassing genes within the terminal 2.5 Mb at 20p13 region.