Skip to Main content Skip to Navigation
Journal articles

A framework for an evidence-based gene list relevant to autism spectrum disorder

Christian Schaaf 1, 2, 3 Catalina Betancur 4 Ryan Yuen 5, 6 Jeremy Parr 7 David Skuse 8 Louise Gallagher 9 Raphael Bernier 10, 11 Janet Buchanan 5 Joseph Buxbaum 12 Chun-An Chen 2 Kira Dies 13 Mayada Elsabbagh 14 Helen Firth 15, 16 Thomas Frazier 17 Ny Hoang 5 Jennifer Howe 5 Christian Marshall 5 Jacques Michaud 18 Olivia Rennie 5 Peter Szatmari 5, 19 Wendy Chung 20 Patrick Bolton 21 Edwin Cook 22 Stephen Scherer 5, 6, 23 Jacob Vorstman 5, 6 
Abstract : Autism spectrum disorder (ASD) is often grouped with other brain-related phenotypes into a broader category of neurodevelopmental disorders (NDDs). In clinical practice, providers need to decide which genes to test in individuals with ASD phenotypes, which requires an understanding of the level of evidence for individual NDD genes that supports an association with ASD. Consensus is currently lacking about which NDD genes have sufficient evidence to support a relationship to ASD. Estimates of the number of genes relevant to ASD differ greatly among research groups and clinical sequencing panels, varying from a few to several hundred. This Roadmap discusses important considerations necessary to provide an evidence-based framework for the curation of NDD genes based on the level of information supporting a clinically relevant relationship between a given gene and ASD.
Document type :
Journal articles
Complete list of metadata
Contributor : Catalina Betancur Connect in order to contact the contributor
Submitted on : Friday, February 5, 2021 - 9:31:44 PM
Last modification on : Tuesday, May 3, 2022 - 3:14:05 PM
Long-term archiving on: : Friday, May 7, 2021 - 8:29:15 AM



Christian Schaaf, Catalina Betancur, Ryan Yuen, Jeremy Parr, David Skuse, et al.. A framework for an evidence-based gene list relevant to autism spectrum disorder. Nature Reviews Genetics, Nature Publishing Group, 2020, 21 (6), pp.367-376. ⟨10.1038/s41576-020-0231-2⟩. ⟨inserm-03133319⟩



Record views


Files downloads