Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels
Purpose - Neurodevelopmental disorders (NDDs), such as intellectual disability (ID) and autism spectrum disorder (ASD), exhibit genetic and phenotypic heterogeneity, making them difficult to differentiate without a molecular diagnosis. The Clinical Genome Resource Intellectual Disability/Autism Gene...
Gespeichert in:
| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
26 May 2022
|
| In: |
Genetics in medicine
Year: 2022, Jahrgang: 24, Heft: 9, Pages: 1899-1908 |
| ISSN: | 1530-0366 |
| DOI: | 10.1016/j.gim.2022.05.001 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.gim.2022.05.001 Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S1098360022007560 
|
| Verfasserangaben: | Erin Rooney Riggs, Taylor I. Bingaman, Carrie-Ann Barry, Andrea Behlmann, Krista Bluske, Bret Bostwick, Alison Bright, Chun-An Chen, Amanda R. Clause, Avinash V. Dharmadhikari, Mythily Ganapathi, Claudia Gonzaga-Jauregui, Andrew R. Grant, Madeline Y. Hughes, Se Rin Kim, Amanda Krause, Jun Liao, Aimé Lumaka, Michelle Mah, Caitlin M. Maloney, Shruthi Mohan, Ikeoluwa A. Osei-Owusu, Emma Reble, Olivia Rennie, Juliann M. Savatt, Hermela Shimelis, Rebecca K. Siegert, Tam P. Sneddon, Courtney Thaxton, Kelly A. Toner, Kien Trung Tran, Ryan Webb, Emma H. Wilcox, Jiani Yin, Xinming Zhuo, Masa Znidarsic, Christa Lese Martin, Catalina Betancur, Jacob A. S. Vorstman, David T. Miller, Christian P. Schaaf |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1822545730 | ||
| 003 | DE-627 | ||
| 005 | 20230427160530.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 221115s2022 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1016/j.gim.2022.05.001 |2 doi | |
| 035 | |a (DE-627)1822545730 | ||
| 035 | |a (DE-599)KXP1822545730 | ||
| 035 | |a (OCoLC)1361692079 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Riggs, Erin Rooney |e VerfasserIn |0 (DE-588)1272835979 |0 (DE-627)1822545722 |4 aut | |
| 245 | 1 | 0 | |a Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels |c Erin Rooney Riggs, Taylor I. Bingaman, Carrie-Ann Barry, Andrea Behlmann, Krista Bluske, Bret Bostwick, Alison Bright, Chun-An Chen, Amanda R. Clause, Avinash V. Dharmadhikari, Mythily Ganapathi, Claudia Gonzaga-Jauregui, Andrew R. Grant, Madeline Y. Hughes, Se Rin Kim, Amanda Krause, Jun Liao, Aimé Lumaka, Michelle Mah, Caitlin M. Maloney, Shruthi Mohan, Ikeoluwa A. Osei-Owusu, Emma Reble, Olivia Rennie, Juliann M. Savatt, Hermela Shimelis, Rebecca K. Siegert, Tam P. Sneddon, Courtney Thaxton, Kelly A. Toner, Kien Trung Tran, Ryan Webb, Emma H. Wilcox, Jiani Yin, Xinming Zhuo, Masa Znidarsic, Christa Lese Martin, Catalina Betancur, Jacob A. S. Vorstman, David T. Miller, Christian P. Schaaf |
| 264 | 1 | |c 26 May 2022 | |
| 300 | |a 10 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 15.11.2022 | ||
| 520 | |a Purpose - Neurodevelopmental disorders (NDDs), such as intellectual disability (ID) and autism spectrum disorder (ASD), exhibit genetic and phenotypic heterogeneity, making them difficult to differentiate without a molecular diagnosis. The Clinical Genome Resource Intellectual Disability/Autism Gene Curation Expert Panel (GCEP) uses systematic curation to distinguish ID/ASD genes that are appropriate for clinical testing (ie, with substantial evidence supporting their relationship to disease) from those that are not. - Methods - Using the Clinical Genome Resource gene-disease validity curation framework, the ID/Autism GCEP classified genes frequently included on clinical ID/ASD testing panels as Definitive, Strong, Moderate, Limited, Disputed, Refuted, or No Known Disease Relationship. - Results - As of September 2021, 156 gene-disease pairs have been evaluated. Although most (75%) were determined to have definitive roles in NDDs, 22 (14%) genes evaluated had either Limited or Disputed evidence. Such genes are currently not recommended for use in clinical testing owing to the limited ability to assess the effect of identified variants. - Conclusion - Our understanding of gene-disease relationships evolves over time; new relationships are discovered and previously-held conclusions may be questioned. Without periodic re-examination, inaccurate gene-disease claims may be perpetuated. The ID/Autism GCEP will continue to evaluate these claims to improve diagnosis and clinical care for NDDs. | ||
| 650 | 4 | |a Autism | |
| 650 | 4 | |a ClinGen | |
| 650 | 4 | |a Gene-disease validity | |
| 650 | 4 | |a Intellectual disability | |
| 650 | 4 | |a Neurodevelopmental disorders | |
| 700 | 1 | |a Bingaman, Taylor I. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Barry, Carrie-Ann |e VerfasserIn |4 aut | |
| 700 | 1 | |a Behlmann, Andrea |e VerfasserIn |4 aut | |
| 700 | 1 | |a Bluske, Krista |e VerfasserIn |4 aut | |
| 700 | 1 | |a Bostwick, Bret |e VerfasserIn |4 aut | |
| 700 | 1 | |a Bright, Alison |e VerfasserIn |4 aut | |
| 700 | 1 | |a Chen, Chun-An |e VerfasserIn |4 aut | |
| 700 | 1 | |a Clause, Amanda R. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Dharmadhikari, Avinash V. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Ganapathi, Mythily |e VerfasserIn |4 aut | |
| 700 | 1 | |a Gonzaga-Jauregui, Claudia |e VerfasserIn |4 aut | |
| 700 | 1 | |a Grant, Andrew R. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Hughes, Madeline Y. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Kim, Se Rin |e VerfasserIn |4 aut | |
| 700 | 1 | |a Krause, Amanda |e VerfasserIn |4 aut | |
| 700 | 1 | |a Liao, Jun |e VerfasserIn |4 aut | |
| 700 | 1 | |a Lumaka, Aimé |e VerfasserIn |4 aut | |
| 700 | 1 | |a Mah, Michelle |e VerfasserIn |4 aut | |
| 700 | 1 | |a Maloney, Caitlin M. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Mohan, Shruthi |e VerfasserIn |4 aut | |
| 700 | 1 | |a Osei-Owusu, Ikeoluwa A. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Reble, Emma |e VerfasserIn |4 aut | |
| 700 | 1 | |a Rennie, Olivia |e VerfasserIn |4 aut | |
| 700 | 1 | |a Savatt, Juliann M. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Shimelis, Hermela |e VerfasserIn |4 aut | |
| 700 | 1 | |a Siegert, Rebecca K. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Sneddon, Tam P. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Thaxton, Courtney |e VerfasserIn |4 aut | |
| 700 | 1 | |a Toner, Kelly A. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Tran, Kien Trung |e VerfasserIn |4 aut | |
| 700 | 1 | |a Webb, Ryan |e VerfasserIn |4 aut | |
| 700 | 1 | |a Wilcox, Emma H. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Yin, Jiani |e VerfasserIn |4 aut | |
| 700 | 1 | |a Zhuo, Xinming |e VerfasserIn |4 aut | |
| 700 | 1 | |a Znidarsic, Masa |e VerfasserIn |4 aut | |
| 700 | 1 | |a Martin, Christa Lese |e VerfasserIn |4 aut | |
| 700 | 1 | |a Betancur, Catalina |e VerfasserIn |4 aut | |
| 700 | 1 | |a Vorstman, Jacob A. S. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Miller, David T. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Schaaf, Christian P. |d 1978- |e VerfasserIn |0 (DE-588)130397318 |0 (DE-627)500686025 |0 (DE-576)298170345 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Genetics in medicine |d Amsterdam : Elsevier, 1998 |g 24(2022), 9, Seite 1899-1908 |h Online-Ressource |w (DE-627)338073361 |w (DE-600)2063504-7 |w (DE-576)109132475 |x 1530-0366 |7 nnas |a Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels |
| 773 | 1 | 8 | |g volume:24 |g year:2022 |g number:9 |g pages:1899-1908 |g extent:10 |a Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels |
| 856 | 4 | 0 | |u https://doi.org/10.1016/j.gim.2022.05.001 |x Verlag |x Resolving-System |z lizenzpflichtig |3 Volltext |
| 856 | 4 | 0 | |u https://www.sciencedirect.com/science/article/pii/S1098360022007560 |x Verlag |z lizenzpflichtig |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20221115 | ||
| 993 | |a Article | ||
| 994 | |a 2022 | ||
| 998 | |g 130397318 |a Schaaf, Christian P. |m 130397318:Schaaf, Christian P. |d 910000 |d 911500 |e 910000PS130397318 |e 911500PS130397318 |k 0/910000/ |k 1/910000/911500/ |p 41 |y j | ||
| 999 | |a KXP-PPN1822545730 |e 4211449591 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"origin":[{"dateIssuedDisp":"26 May 2022","dateIssuedKey":"2022"}],"language":["eng"],"note":["Gesehen am 15.11.2022"],"recId":"1822545730","name":{"displayForm":["Erin Rooney Riggs, Taylor I. Bingaman, Carrie-Ann Barry, Andrea Behlmann, Krista Bluske, Bret Bostwick, Alison Bright, Chun-An Chen, Amanda R. Clause, Avinash V. Dharmadhikari, Mythily Ganapathi, Claudia Gonzaga-Jauregui, Andrew R. Grant, Madeline Y. Hughes, Se Rin Kim, Amanda Krause, Jun Liao, Aimé Lumaka, Michelle Mah, Caitlin M. Maloney, Shruthi Mohan, Ikeoluwa A. Osei-Owusu, Emma Reble, Olivia Rennie, Juliann M. Savatt, Hermela Shimelis, Rebecca K. Siegert, Tam P. Sneddon, Courtney Thaxton, Kelly A. Toner, Kien Trung Tran, Ryan Webb, Emma H. Wilcox, Jiani Yin, Xinming Zhuo, Masa Znidarsic, Christa Lese Martin, Catalina Betancur, Jacob A. S. Vorstman, David T. Miller, Christian P. Schaaf"]},"type":{"media":"Online-Ressource","bibl":"article-journal"},"relHost":[{"pubHistory":["1.1998/99 -"],"origin":[{"publisherPlace":"Amsterdam ; London, UK ; Baltimore, Md.","dateIssuedKey":"1998","dateIssuedDisp":"1998-","publisher":"Elsevier ; Springer Nature ; Lippincott, Williams & Wilkins"}],"recId":"338073361","language":["eng"],"note":["Gesehen am 27.07.2023"],"corporate":[{"display":"American College of Medical Genetics","role":"isb"}],"type":{"media":"Online-Ressource","bibl":"periodical"},"title":[{"subtitle":"official journal of the American College of Medical Genetics","title":"Genetics in medicine","title_sort":"Genetics in medicine"}],"physDesc":[{"extent":"Online-Ressource"}],"id":{"eki":["338073361"],"issn":["1530-0366"],"zdb":["2063504-7"]},"part":{"pages":"1899-1908","issue":"9","extent":"10","year":"2022","volume":"24","text":"24(2022), 9, Seite 1899-1908"},"titleAlt":[{"title":"GIM"}],"disp":"Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panelsGenetics in medicine"}],"title":[{"title":"Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels","title_sort":"Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels"}],"physDesc":[{"extent":"10 S."}],"id":{"doi":["10.1016/j.gim.2022.05.001"],"eki":["1822545730"]},"person":[{"role":"aut","given":"Erin Rooney","family":"Riggs","display":"Riggs, Erin Rooney"},{"family":"Bingaman","display":"Bingaman, Taylor I.","role":"aut","given":"Taylor I."},{"role":"aut","given":"Carrie-Ann","family":"Barry","display":"Barry, Carrie-Ann"},{"role":"aut","given":"Andrea","family":"Behlmann","display":"Behlmann, Andrea"},{"display":"Bluske, Krista","family":"Bluske","given":"Krista","role":"aut"},{"given":"Bret","role":"aut","display":"Bostwick, Bret","family":"Bostwick"},{"family":"Bright","display":"Bright, Alison","role":"aut","given":"Alison"},{"display":"Chen, Chun-An","family":"Chen","given":"Chun-An","role":"aut"},{"display":"Clause, Amanda R.","family":"Clause","given":"Amanda R.","role":"aut"},{"family":"Dharmadhikari","display":"Dharmadhikari, Avinash V.","role":"aut","given":"Avinash V."},{"display":"Ganapathi, Mythily","family":"Ganapathi","given":"Mythily","role":"aut"},{"given":"Claudia","role":"aut","display":"Gonzaga-Jauregui, Claudia","family":"Gonzaga-Jauregui"},{"family":"Grant","display":"Grant, Andrew R.","role":"aut","given":"Andrew R."},{"family":"Hughes","display":"Hughes, Madeline Y.","role":"aut","given":"Madeline Y."},{"given":"Se Rin","role":"aut","display":"Kim, Se Rin","family":"Kim"},{"role":"aut","given":"Amanda","family":"Krause","display":"Krause, Amanda"},{"display":"Liao, Jun","family":"Liao","given":"Jun","role":"aut"},{"given":"Aimé","role":"aut","display":"Lumaka, Aimé","family":"Lumaka"},{"given":"Michelle","role":"aut","display":"Mah, Michelle","family":"Mah"},{"role":"aut","given":"Caitlin M.","family":"Maloney","display":"Maloney, Caitlin M."},{"given":"Shruthi","role":"aut","display":"Mohan, Shruthi","family":"Mohan"},{"role":"aut","given":"Ikeoluwa A.","family":"Osei-Owusu","display":"Osei-Owusu, Ikeoluwa A."},{"family":"Reble","display":"Reble, Emma","role":"aut","given":"Emma"},{"given":"Olivia","role":"aut","display":"Rennie, Olivia","family":"Rennie"},{"family":"Savatt","display":"Savatt, Juliann M.","role":"aut","given":"Juliann M."},{"given":"Hermela","role":"aut","display":"Shimelis, Hermela","family":"Shimelis"},{"display":"Siegert, Rebecca K.","family":"Siegert","given":"Rebecca K.","role":"aut"},{"given":"Tam P.","role":"aut","display":"Sneddon, Tam P.","family":"Sneddon"},{"family":"Thaxton","display":"Thaxton, Courtney","role":"aut","given":"Courtney"},{"display":"Toner, Kelly A.","family":"Toner","given":"Kelly A.","role":"aut"},{"display":"Tran, Kien Trung","family":"Tran","given":"Kien Trung","role":"aut"},{"given":"Ryan","role":"aut","display":"Webb, Ryan","family":"Webb"},{"display":"Wilcox, Emma H.","family":"Wilcox","given":"Emma H.","role":"aut"},{"given":"Jiani","role":"aut","display":"Yin, Jiani","family":"Yin"},{"role":"aut","given":"Xinming","family":"Zhuo","display":"Zhuo, Xinming"},{"role":"aut","given":"Masa","family":"Znidarsic","display":"Znidarsic, Masa"},{"role":"aut","given":"Christa Lese","family":"Martin","display":"Martin, Christa Lese"},{"display":"Betancur, Catalina","family":"Betancur","given":"Catalina","role":"aut"},{"family":"Vorstman","display":"Vorstman, Jacob A. S.","role":"aut","given":"Jacob A. S."},{"family":"Miller","display":"Miller, David T.","role":"aut","given":"David T."},{"family":"Schaaf","display":"Schaaf, Christian P.","role":"aut","given":"Christian P."}]} | ||
| SRT | |a RIGGSERINRCLINICALVA2620 | ||