Session # 2471T

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
  • Conference: American Society of Human Genetics (ASHG)
  • Date: Thursday, Oct 19, 2017 2:00pm - 3:00pm

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