ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time
- Autores
- Tshering, Kezang C.; DiStefano, Marina T.; Oza, Andrea M.; Ajuyah, Pamela; Webb, Ryan; Edoh, Enyonam; Broeren, Ellie; Ratliff, Julie; Gitau, Vanessa; Paris, Kelley; Aburyyan, Amal; Alexander, John; Albano, Victoria; Bai, Donglin; Booth, Kevin; Buonfiglio, Paula Inés; Charfeddine, Cherine; Dalamon, Viviana Karina; Del Castillo, Ignacio; Moreno Pelayo, Miguel Angel; Smith, Richard J.; Azaiez, Hela; Amr, Sami
- Año de publicación
- 2025
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- Purpose: The Clinical Genome Resource (ClinGen) Hearing Loss Gene Curation Expert Panel was assembled in 2016 and has since curated 174 gene-disease relationships (GDRs) using ClinGen’s semiquantitative framework. ClinGen mandates the timely recuration of all GDRs classified as Disputed, Limited, Moderate, and Strong every 2 to 3 years. Methods: Thirty-five GDRs met the criteria for recuration within 2 years of original curation. Previous evidence was reevaluated using the latest curation guidelines, and a comprehensive literature review was performed to obtain new evidence. Recurations were approved by the Gene Curation Expert Panel and published on the ClinGen website (www.clinicalgenome.org). Results: Eight of 35 GDRs (22%) changed their classification. Two Moderate and 5 Strong GDRs were upgraded to Definitive because of new case evidence. One Strong was subsumed under another Definitive GDR after evaluation of the lumping/splitting of disease entities. Twenty-seven of 35 patients remained unchanged, with little to no new evidence reported. Conclusion: Genes classified as Moderate and Strong were likely to build evidence and change their classification over time, whereas Limited were unlikely to gain evidence. These findings highlight the critical role of recuration in ensuring that genetic tests and research studies incorporate the most recent evidence into their efforts.
Fil: Tshering, Kezang C.. The Broad Institute Of Mit And Harvard; Estados Unidos
Fil: DiStefano, Marina T.. The Broad Institute Of Mit And Harvard; Estados Unidos
Fil: Oza, Andrea M.. The Broad Institute Of Mit And Harvard; Estados Unidos
Fil: Ajuyah, Pamela. The Broad Institute Of Mit And Harvard; Estados Unidos
Fil: Webb, Ryan. The Broad Institute Of Mit And Harvard; Estados Unidos
Fil: Edoh, Enyonam. The Broad Institute Of Mit And Harvard; Estados Unidos
Fil: Broeren, Ellie. The Broad Institute Of Mit And Harvard; Estados Unidos
Fil: Ratliff, Julie. The Broad Institute Of Mit And Harvard; Estados Unidos
Fil: Gitau, Vanessa. The Broad Institute Of Mit And Harvard; Estados Unidos
Fil: Paris, Kelley. The Broad Institute Of Mit And Harvard; Estados Unidos
Fil: Aburyyan, Amal. University of Washington; Estados Unidos
Fil: Alexander, John. Myriad Women's Health; Estados Unidos
Fil: Albano, Victoria. Boston Children's Hospital; Estados Unidos
Fil: Bai, Donglin. Western University; Canadá
Fil: Booth, Kevin. Indiana University. School of Medicine; Estados Unidos
Fil: Buonfiglio, Paula Inés. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina
Fil: Charfeddine, Cherine. University of Tunis El Manar; Túnez
Fil: Dalamon, Viviana Karina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina. Universidad de Buenos Aires; Argentina
Fil: Del Castillo, Ignacio. Consejería de Sanidad de la Comunidad de Madrid. Hospital Universitario Ramon y Cajal; España
Fil: Moreno Pelayo, Miguel Angel. Consejería de Sanidad de la Comunidad de Madrid. Hospital Universitario Ramon y Cajal; España
Fil: Smith, Richard J.. University of Iowa; Estados Unidos
Fil: Azaiez, Hela. University of Iowa; Estados Unidos
Fil: Amr, Sami. Mass General Brigham Personalized Medicen; Estados Unidos - Materia
-
ClinGen
Deafnes
Genetic diagnosis
Hearing loss - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by-nc-nd/2.5/ar/
- Repositorio
.jpg)
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/279887
Ver los metadatos del registro completo
| id |
CONICETDig_26f564a985c0573ef6bce245a8a41929 |
|---|---|
| oai_identifier_str |
oai:ri.conicet.gov.ar:11336/279887 |
| network_acronym_str |
CONICETDig |
| repository_id_str |
3498 |
| network_name_str |
CONICET Digital (CONICET) |
| spelling |
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over timeTshering, Kezang C.DiStefano, Marina T.Oza, Andrea M.Ajuyah, PamelaWebb, RyanEdoh, EnyonamBroeren, EllieRatliff, JulieGitau, VanessaParis, KelleyAburyyan, AmalAlexander, JohnAlbano, VictoriaBai, DonglinBooth, KevinBuonfiglio, Paula InésCharfeddine, CherineDalamon, Viviana KarinaDel Castillo, IgnacioMoreno Pelayo, Miguel AngelSmith, Richard J.Azaiez, HelaAmr, SamiClinGenDeafnesGenetic diagnosisHearing losshttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3Purpose: The Clinical Genome Resource (ClinGen) Hearing Loss Gene Curation Expert Panel was assembled in 2016 and has since curated 174 gene-disease relationships (GDRs) using ClinGen’s semiquantitative framework. ClinGen mandates the timely recuration of all GDRs classified as Disputed, Limited, Moderate, and Strong every 2 to 3 years. Methods: Thirty-five GDRs met the criteria for recuration within 2 years of original curation. Previous evidence was reevaluated using the latest curation guidelines, and a comprehensive literature review was performed to obtain new evidence. Recurations were approved by the Gene Curation Expert Panel and published on the ClinGen website (www.clinicalgenome.org). Results: Eight of 35 GDRs (22%) changed their classification. Two Moderate and 5 Strong GDRs were upgraded to Definitive because of new case evidence. One Strong was subsumed under another Definitive GDR after evaluation of the lumping/splitting of disease entities. Twenty-seven of 35 patients remained unchanged, with little to no new evidence reported. Conclusion: Genes classified as Moderate and Strong were likely to build evidence and change their classification over time, whereas Limited were unlikely to gain evidence. These findings highlight the critical role of recuration in ensuring that genetic tests and research studies incorporate the most recent evidence into their efforts.Fil: Tshering, Kezang C.. The Broad Institute Of Mit And Harvard; Estados UnidosFil: DiStefano, Marina T.. The Broad Institute Of Mit And Harvard; Estados UnidosFil: Oza, Andrea M.. The Broad Institute Of Mit And Harvard; Estados UnidosFil: Ajuyah, Pamela. The Broad Institute Of Mit And Harvard; Estados UnidosFil: Webb, Ryan. The Broad Institute Of Mit And Harvard; Estados UnidosFil: Edoh, Enyonam. The Broad Institute Of Mit And Harvard; Estados UnidosFil: Broeren, Ellie. The Broad Institute Of Mit And Harvard; Estados UnidosFil: Ratliff, Julie. The Broad Institute Of Mit And Harvard; Estados UnidosFil: Gitau, Vanessa. The Broad Institute Of Mit And Harvard; Estados UnidosFil: Paris, Kelley. The Broad Institute Of Mit And Harvard; Estados UnidosFil: Aburyyan, Amal. University of Washington; Estados UnidosFil: Alexander, John. Myriad Women's Health; Estados UnidosFil: Albano, Victoria. Boston Children's Hospital; Estados UnidosFil: Bai, Donglin. Western University; CanadáFil: Booth, Kevin. Indiana University. School of Medicine; Estados UnidosFil: Buonfiglio, Paula Inés. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; ArgentinaFil: Charfeddine, Cherine. University of Tunis El Manar; TúnezFil: Dalamon, Viviana Karina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina. Universidad de Buenos Aires; ArgentinaFil: Del Castillo, Ignacio. Consejería de Sanidad de la Comunidad de Madrid. Hospital Universitario Ramon y Cajal; EspañaFil: Moreno Pelayo, Miguel Angel. Consejería de Sanidad de la Comunidad de Madrid. Hospital Universitario Ramon y Cajal; EspañaFil: Smith, Richard J.. University of Iowa; Estados UnidosFil: Azaiez, Hela. University of Iowa; Estados UnidosFil: Amr, Sami. Mass General Brigham Personalized Medicen; Estados UnidosLippincott Williams2025-05info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/279887Tshering, Kezang C.; DiStefano, Marina T.; Oza, Andrea M.; Ajuyah, Pamela; Webb, Ryan; et al.; ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time; Lippincott Williams; Genetics In Medicine; 27; 5; 5-2025; 1-71098-36001530-0366CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/abs/pii/S1098360025000395info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gim.2025.101392info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-nd/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2026-02-26T10:12:23Zoai:ri.conicet.gov.ar:11336/279887instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982026-02-26 10:12:23.662CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
| dc.title.none.fl_str_mv |
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time |
| title |
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time |
| spellingShingle |
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time Tshering, Kezang C. ClinGen Deafnes Genetic diagnosis Hearing loss |
| title_short |
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time |
| title_full |
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time |
| title_fullStr |
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time |
| title_full_unstemmed |
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time |
| title_sort |
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time |
| dc.creator.none.fl_str_mv |
Tshering, Kezang C. DiStefano, Marina T. Oza, Andrea M. Ajuyah, Pamela Webb, Ryan Edoh, Enyonam Broeren, Ellie Ratliff, Julie Gitau, Vanessa Paris, Kelley Aburyyan, Amal Alexander, John Albano, Victoria Bai, Donglin Booth, Kevin Buonfiglio, Paula Inés Charfeddine, Cherine Dalamon, Viviana Karina Del Castillo, Ignacio Moreno Pelayo, Miguel Angel Smith, Richard J. Azaiez, Hela Amr, Sami |
| author |
Tshering, Kezang C. |
| author_facet |
Tshering, Kezang C. DiStefano, Marina T. Oza, Andrea M. Ajuyah, Pamela Webb, Ryan Edoh, Enyonam Broeren, Ellie Ratliff, Julie Gitau, Vanessa Paris, Kelley Aburyyan, Amal Alexander, John Albano, Victoria Bai, Donglin Booth, Kevin Buonfiglio, Paula Inés Charfeddine, Cherine Dalamon, Viviana Karina Del Castillo, Ignacio Moreno Pelayo, Miguel Angel Smith, Richard J. Azaiez, Hela Amr, Sami |
| author_role |
author |
| author2 |
DiStefano, Marina T. Oza, Andrea M. Ajuyah, Pamela Webb, Ryan Edoh, Enyonam Broeren, Ellie Ratliff, Julie Gitau, Vanessa Paris, Kelley Aburyyan, Amal Alexander, John Albano, Victoria Bai, Donglin Booth, Kevin Buonfiglio, Paula Inés Charfeddine, Cherine Dalamon, Viviana Karina Del Castillo, Ignacio Moreno Pelayo, Miguel Angel Smith, Richard J. Azaiez, Hela Amr, Sami |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author author |
| dc.subject.none.fl_str_mv |
ClinGen Deafnes Genetic diagnosis Hearing loss |
| topic |
ClinGen Deafnes Genetic diagnosis Hearing loss |
| purl_subject.fl_str_mv |
https://purl.org/becyt/ford/3.1 https://purl.org/becyt/ford/3 |
| dc.description.none.fl_txt_mv |
Purpose: The Clinical Genome Resource (ClinGen) Hearing Loss Gene Curation Expert Panel was assembled in 2016 and has since curated 174 gene-disease relationships (GDRs) using ClinGen’s semiquantitative framework. ClinGen mandates the timely recuration of all GDRs classified as Disputed, Limited, Moderate, and Strong every 2 to 3 years. Methods: Thirty-five GDRs met the criteria for recuration within 2 years of original curation. Previous evidence was reevaluated using the latest curation guidelines, and a comprehensive literature review was performed to obtain new evidence. Recurations were approved by the Gene Curation Expert Panel and published on the ClinGen website (www.clinicalgenome.org). Results: Eight of 35 GDRs (22%) changed their classification. Two Moderate and 5 Strong GDRs were upgraded to Definitive because of new case evidence. One Strong was subsumed under another Definitive GDR after evaluation of the lumping/splitting of disease entities. Twenty-seven of 35 patients remained unchanged, with little to no new evidence reported. Conclusion: Genes classified as Moderate and Strong were likely to build evidence and change their classification over time, whereas Limited were unlikely to gain evidence. These findings highlight the critical role of recuration in ensuring that genetic tests and research studies incorporate the most recent evidence into their efforts. Fil: Tshering, Kezang C.. The Broad Institute Of Mit And Harvard; Estados Unidos Fil: DiStefano, Marina T.. The Broad Institute Of Mit And Harvard; Estados Unidos Fil: Oza, Andrea M.. The Broad Institute Of Mit And Harvard; Estados Unidos Fil: Ajuyah, Pamela. The Broad Institute Of Mit And Harvard; Estados Unidos Fil: Webb, Ryan. The Broad Institute Of Mit And Harvard; Estados Unidos Fil: Edoh, Enyonam. The Broad Institute Of Mit And Harvard; Estados Unidos Fil: Broeren, Ellie. The Broad Institute Of Mit And Harvard; Estados Unidos Fil: Ratliff, Julie. The Broad Institute Of Mit And Harvard; Estados Unidos Fil: Gitau, Vanessa. The Broad Institute Of Mit And Harvard; Estados Unidos Fil: Paris, Kelley. The Broad Institute Of Mit And Harvard; Estados Unidos Fil: Aburyyan, Amal. University of Washington; Estados Unidos Fil: Alexander, John. Myriad Women's Health; Estados Unidos Fil: Albano, Victoria. Boston Children's Hospital; Estados Unidos Fil: Bai, Donglin. Western University; Canadá Fil: Booth, Kevin. Indiana University. School of Medicine; Estados Unidos Fil: Buonfiglio, Paula Inés. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina Fil: Charfeddine, Cherine. University of Tunis El Manar; Túnez Fil: Dalamon, Viviana Karina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina. Universidad de Buenos Aires; Argentina Fil: Del Castillo, Ignacio. Consejería de Sanidad de la Comunidad de Madrid. Hospital Universitario Ramon y Cajal; España Fil: Moreno Pelayo, Miguel Angel. Consejería de Sanidad de la Comunidad de Madrid. Hospital Universitario Ramon y Cajal; España Fil: Smith, Richard J.. University of Iowa; Estados Unidos Fil: Azaiez, Hela. University of Iowa; Estados Unidos Fil: Amr, Sami. Mass General Brigham Personalized Medicen; Estados Unidos |
| description |
Purpose: The Clinical Genome Resource (ClinGen) Hearing Loss Gene Curation Expert Panel was assembled in 2016 and has since curated 174 gene-disease relationships (GDRs) using ClinGen’s semiquantitative framework. ClinGen mandates the timely recuration of all GDRs classified as Disputed, Limited, Moderate, and Strong every 2 to 3 years. Methods: Thirty-five GDRs met the criteria for recuration within 2 years of original curation. Previous evidence was reevaluated using the latest curation guidelines, and a comprehensive literature review was performed to obtain new evidence. Recurations were approved by the Gene Curation Expert Panel and published on the ClinGen website (www.clinicalgenome.org). Results: Eight of 35 GDRs (22%) changed their classification. Two Moderate and 5 Strong GDRs were upgraded to Definitive because of new case evidence. One Strong was subsumed under another Definitive GDR after evaluation of the lumping/splitting of disease entities. Twenty-seven of 35 patients remained unchanged, with little to no new evidence reported. Conclusion: Genes classified as Moderate and Strong were likely to build evidence and change their classification over time, whereas Limited were unlikely to gain evidence. These findings highlight the critical role of recuration in ensuring that genetic tests and research studies incorporate the most recent evidence into their efforts. |
| publishDate |
2025 |
| dc.date.none.fl_str_mv |
2025-05 |
| dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://purl.org/coar/resource_type/c_6501 info:ar-repo/semantics/articulo |
| format |
article |
| status_str |
publishedVersion |
| dc.identifier.none.fl_str_mv |
http://hdl.handle.net/11336/279887 Tshering, Kezang C.; DiStefano, Marina T.; Oza, Andrea M.; Ajuyah, Pamela; Webb, Ryan; et al.; ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time; Lippincott Williams; Genetics In Medicine; 27; 5; 5-2025; 1-7 1098-3600 1530-0366 CONICET Digital CONICET |
| url |
http://hdl.handle.net/11336/279887 |
| identifier_str_mv |
Tshering, Kezang C.; DiStefano, Marina T.; Oza, Andrea M.; Ajuyah, Pamela; Webb, Ryan; et al.; ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time; Lippincott Williams; Genetics In Medicine; 27; 5; 5-2025; 1-7 1098-3600 1530-0366 CONICET Digital CONICET |
| dc.language.none.fl_str_mv |
eng |
| language |
eng |
| dc.relation.none.fl_str_mv |
info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/abs/pii/S1098360025000395 info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gim.2025.101392 |
| dc.rights.none.fl_str_mv |
info:eu-repo/semantics/openAccess https://creativecommons.org/licenses/by-nc-nd/2.5/ar/ |
| eu_rights_str_mv |
openAccess |
| rights_invalid_str_mv |
https://creativecommons.org/licenses/by-nc-nd/2.5/ar/ |
| dc.format.none.fl_str_mv |
application/pdf application/pdf application/pdf |
| dc.publisher.none.fl_str_mv |
Lippincott Williams |
| publisher.none.fl_str_mv |
Lippincott Williams |
| dc.source.none.fl_str_mv |
reponame:CONICET Digital (CONICET) instname:Consejo Nacional de Investigaciones Científicas y Técnicas |
| reponame_str |
CONICET Digital (CONICET) |
| collection |
CONICET Digital (CONICET) |
| instname_str |
Consejo Nacional de Investigaciones Científicas y Técnicas |
| repository.name.fl_str_mv |
CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas |
| repository.mail.fl_str_mv |
dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar |
| _version_ |
1858305525068857344 |
| score |
13.176822 |