Authors
Christian P Schaaf, Catalina Betancur, Ryan KC 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 Szatmari, Wendy K Chung, Patrick F Bolton, Edwin H Cook, Stephen W Scherer, Jacob AS Vorstman
Publication date
2020/6
Source
Nature Reviews Genetics
Volume
21
Issue
6
Pages
367-376
Publisher
Nature Publishing Group UK
Description
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.
Scholar articles
CP Schaaf, C Betancur, RKC Yuen, JR Parr, DH Skuse… - Nature Reviews Genetics, 2020