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.
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C.P.S. is supported by CDMRP Grant AR160154, the Foundation for Prader-Willi Research, the NR2F1 Foundation and the USP7 Foundation. K.A.D. is supported by the Boston Children’s Hospital Neuroscience Clinical Cluster grant. E.H.C. is supported by National Institute of Mental Health (NIMH) grant R01MH110920. P.S. is supported by Canadian Institutes of Health Research (CIHR) funding. S.W.S. is supported by the GlaxoSmithKline–CIHR Endowed Chair in Genome Sciences at the Hospital for Sick Children and University of Toronto. J.A.S.V. is funded by NIMH grant 1U01MH119741–01 and CIHR.
H.V.F. is a section editor for Genetics for UpToDate. W.K.C. declares that she is part of the Regeneron Genetics Center Scientific Advisory Board. S.W.S. declares that he is part of scientific advisory committees and/or has intellectual property licensed to Deep Genomics, Population Bio, Lineagen and Athena Diagnostics.
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Schaaf, C.P., Betancur, C., Yuen, R.K.C. et al. A framework for an evidence-based gene list relevant to autism spectrum disorder. Nat Rev Genet 21, 367–376 (2020). https://doi.org/10.1038/s41576-020-0231-2
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