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

Lookup NU author(s): Professor Jeremy Parr

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Abstract

© 2020, Springer Nature Limited. 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 metadata

Author(s): Schaaf CP, Betancur C, Yuen RKC, Parr JR, Skuse DH, Gallagher L, Bernier RA, Buchanan JA, Buxbaum JD, Chen C-A, Dies KA, Elsabbagh M, Firth HV, Frazier T, Hoang N, Howe J, Marshall CR, Michaud JL, Rennie O, Szatmari P, Chung WK, Bolton PF, Cook EH, Scherer SW, Vorstman JAS

Publication type: Review

Publication status: Published

Journal: Nature Reviews Genetics

Year: 2020

Volume: 21

Pages: 367-376

Print publication date: 01/06/2020

Online publication date: 21/04/2020

Acceptance date: 17/03/2020

ISSN (print): 1471-0056

ISSN (electronic): 1471-0064

Publisher: Nature Research

URL: https://doi.org/10.1038/s41576-020-0231-2

DOI: 10.1038/s41576-020-0231-2

PubMed id: 32317787

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