Session # Abstract Poster# 719

"N of one" is the loneliest number: How a lack of corroborating case reports is hindering the classification of genes

• Ambry Genetics has reported novel candidate gene findings in 234 cases for 190 different genes.
• Ongoing reassessment of uncharacterized gene reported on diagnostic exome sequencing (DES) to date has resulted in the establishment of a gene-disease relationship in approximately 1/3 (35.4%).
• Of the remaining 115 uncharacterized genes, 67 (57.8%) were reported 2 or more years ago, meaning there was sufficient evidence at the time to associate the gene with disease; however robust patient data has not yet become available

• Authors: Meghan Towne; Brian Schoenfeld; Kirsten Blanco; Sha Tang; Kelly Radtke; Kelly Farwell Hagman; Deepali Shinde
• Conference: ACMG 2019
• Date: Thursday, Apr 04, 2019 10:00am - 11:30am