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Never stop looking: Dual diagnoses due to updated gene–disease relationships in exome patients

Date:
Friday, Mar 13, 2026 10:30am – 11:30am
Conference:
ACMG 2026
Authors:
Erica D Smith, Stephany Tandy, Victoria Ellis, Wendy Alcaraz

Presenting Author: Victoria Ellis, MS, CGC

Take home points: 

  1. 0.5% of initially Positive ES cases received a sequential diagnosis due to updated GDRs Reanalysis of ES cases over time continues to identify new diagnoses, specifically due to updated GDRs and MODs.
  2. Proactive reanalysis is valuable even in probands with an apparently complete diagnosis. Identification of a sequential diagnosis can more fully explain phenotype.
  3. Cases with NDD phenotypes may benefit from lab-initiated reanalysis due to potential sequential diagnoses with overlapping features.
Poster Abstract