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

Christian P. Schaaf, Catalina Betancur, Ryan K.C. Yuen, Jeremy R. Parr, David H. Skuse, Louise Gallagher, Raphael A. Bernier, Janet A. Buchanan, Joseph D. Buxbaum, Chun An Chen, Kira A. Dies, Mayada Elsabbagh, Helen V. Firth, Thomas Frazier, Ny Hoang, Jennifer Howe, Christian R. Marshall, Jacques L. Michaud, Olivia Rennie, Peter SzatmariWendy K. Chung, Patrick F. Bolton, Edwin H. Cook, Stephen W. Scherer*, Jacob A.S. Vorstman

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

67 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)367-376
Number of pages10
Issue number6
Publication statusPublished - 1 Jun 2020

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