Article
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2025
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 T A, Buonfiglio Paula I, Charfeddine Cherine, Dalamón Viviana, Castillo Ignacio Del, Moreno-Pelayo Miguel Angel, Duzkale Hatice, Dorshorst Ben, Faridi Rabia, Kenna Margaret, Lewis Morag A, Luo Minjie, Lu Yu, Mkaouar Rahma, Matsunaga Tatsuo, Nara Kiyomitsu, Pandya Arti, Redfield Shelby, Roux Isabelle, Schimmenti Lisa A, Schrauwen Isabelle, Shaaban Sherin, Shen Jun, Vona Barbara, Smith Richard J, Rehm Heidi L, Azaiez Hela, Abou Tayoun Ahmad N, Amr Sami S
Abstract excerpt
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...
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