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 Szatmari; Wendy K. Chung; Patrick F. Bolton; Edwin H. Cook; Stephen W. Scherer; Jacob A.S. Vorstman

doi:10.1038/s41576-020-0231-2

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

Research output: Contribution to journal › Review article › peer-review

76 Scopus citations

Abstract

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 language	English
Pages (from-to)	367-376
Number of pages	10
Journal	Nature Reviews Genetics
Volume	21
Issue number	6
DOIs	https://doi.org/10.1038/s41576-020-0231-2
State	Published - 1 Jun 2020

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Schaaf, C. P., Betancur, C., Yuen, R. K. C., Parr, J. R., Skuse, D. H., Gallagher, L., Bernier, R. A., Buchanan, J. A., Buxbaum, J. D., Chen, C. A., Dies, K. A., Elsabbagh, M., Firth, H. V., Frazier, T., Hoang, N., Howe, J., Marshall, C. R., Michaud, J. L., Rennie, O., ... Vorstman, J. A. S. (2020). A framework for an evidence-based gene list relevant to autism spectrum disorder. Nature Reviews Genetics, 21(6), 367-376. https://doi.org/10.1038/s41576-020-0231-2

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title = "A framework for an evidence-based gene list relevant to autism spectrum disorder",

abstract = "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.",

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

note = "Publisher Copyright: {\textcopyright} 2020, Springer Nature Limited.",

year = "2020",

month = jun,

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doi = "10.1038/s41576-020-0231-2",

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Schaaf, CP, Betancur, C, Yuen, RKC, Parr, JR, Skuse, DH, Gallagher, L, Bernier, RA, Buchanan, JA, Buxbaum, JD, Chen, CA, 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 2020, 'A framework for an evidence-based gene list relevant to autism spectrum disorder', Nature Reviews Genetics, vol. 21, no. 6, pp. 367-376. https://doi.org/10.1038/s41576-020-0231-2

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AU - Schaaf, Christian P.

AU - Betancur, Catalina

AU - Yuen, Ryan K.C.

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AU - Skuse, David H.

AU - Gallagher, Louise

AU - Bernier, Raphael A.

AU - Buchanan, Janet A.

AU - Buxbaum, Joseph D.

AU - Chen, Chun An

AU - Dies, Kira A.

AU - Elsabbagh, Mayada

AU - Firth, Helen V.

AU - Frazier, Thomas

AU - Hoang, Ny

AU - Howe, Jennifer

AU - Marshall, Christian R.

AU - Michaud, Jacques L.

AU - Rennie, Olivia

AU - Szatmari, Peter

AU - Chung, Wendy K.

AU - Bolton, Patrick F.

AU - Cook, Edwin H.

AU - Scherer, Stephen W.

AU - Vorstman, Jacob A.S.

PY - 2020/6/1

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N2 - 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.

AB - 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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VL - 21

SP - 367

EP - 376

JO - Nature Reviews Genetics

JF - Nature Reviews Genetics

IS - 6

ER -

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

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