Exome & General Genetics

Session # 345

Expansion and further delineation of the phenotype of SETD5

The SET domain containing 5 gene (SETD5) encodes the SET domain-containing protein 5 and has been reported to be associated with intellectual disability (ID), language delay, and dysmorphic features. Previously reported individuals with SETD5 alterations have been described with psychiatric/behavioral anomalies such as autism (ASD) and stererotypic behaviors, gastrointestinal abnormalities. Craniofacial abnormalities such as low posterior hairline, nasal abnormalities, upslanting/ downslanting palpebral fissures, long and smooth philtrum, thin upper lip, and ear abnormalities have also been described.

  • Authors: Zöe Powis; Kirsty McWalter; Julie Cohen; Ali Fatemi; Karen David; James Reynolds; LaDonna Immken; Honey Nagakura; Christopher Cunniff; Katelyn Payne; Tina Barbaro-Dieber; Karen Gripp; Lara Baker; Tara Stamper; Kyrieckos Aleck; Elizabeth Jordan; Joseph Hersh; Jennifer Burton; Ingrid Wentsensen; Maria Guillen Sacoto; Rebecca Willaert; Megan Cho; Robert Huether; Sha Tang; Kelly Hagman
  • Conference: American College of Medical Genetics and Genomics (ACMG)
  • Date: Thursday, Mar 23, 2017 10:00am - 12:00pm

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