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

Nat Rev Genet. 2020 Jun;21(6):367-376. doi: 10.1038/s41576-020-0231-2. Epub 2020 Apr 21.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Review

MeSH terms

  • Autism Spectrum Disorder / genetics*
  • Brain / growth & development
  • Cognition / physiology
  • Evidence-Based Medicine / methods*
  • Genetic Association Studies / methods*
  • Humans
  • Intellectual Disability / genetics