Parental variant study is informative for variant classification in significant number of neurodevelopment genes
Parental variant study (PVS) was informative for 45% of genes with VUS
PVS was most likely to be informative for genes associated with a well described syndrome, e.g., CHARGE, Kleefstra, Rubinstein-Taybi syndrome, or severe early-onset phenotype, e.g., infantile epileptic encephalopathy
PVS was least likely to be informative in genes with multiple inheritance patterns, incomplete penetrance, variable expressivity, or non-specific disease phenotype
Authors: Elaine C. Weltmer; Rhonda Lassiter; Shoji Ichikawa; Tina Pesaran; Jade Tinker; Heather Newman; Tiffiney Carter; Negar Ghahramani; Lucia Guidugli; Jing Wang