Figure 2
From: A curated gene list for reporting results of newborn genomic sequencing
Summary of curated data for 1,514 gene–disease associations. The level of evidence that the gene is associated with disease, age of onset, and penetrance for all gene–disease pairs curated (top) and statistics for those with strong and definitive evidence (bottom) are demonstrated. Overall, 884 genes that have strong/definitive evidence to cause highly penetrant childhood-onset disease and 70 additional genes that are actionable in childhood met the BabySeq Project NGSR criteria, ~59.3% of which are typically inherited in an autosomal recessive manner and ~6.4% are inherited in an X-linked recessive manner.
