Clinical Domain Working Groups
Hearing Loss Gene Curation Expert Panel
Membership DocumentsThe Hereditary Hearing Loss Gene Curation Expert Panel is focused on defining the genes in which pathogenic variants cause hearing loss. The gene-disease validity curation process includes 6 classification categories describing the level of evidence supporting a given gene-disease relationship: Definitive, Strong, Moderate, Limited, Disputed, Refuted.
Expert Panel Status - Approved Expert Panel
Documents
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Expert Interpretation of Genes and Variants in Hereditary Hearing LossPublications - September 16, 2020
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ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene–Disease PairsPublications - March 21, 2019
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Gene-Disease Validity Standard Operating Procedures, Version 6 (Archived)Curation Activity Procedures - August 29, 2018 Archived Document
Expert Panel Membership
Membership spans many fields, including genetics, medical, academia, and industry.
Ahmad Abou Tayoun, PhD
Sami Amr, PhD
Hela Azaiez, PhD
Coordinators
Kelley Paris, BS
Curators
Pamela Ajuyah Robertson, PhD
Marina DiStefano, PhD, FACMG
Vanessa Gitau, BA
Andrea Oza, MS, CGC
Julie Ratliff, BS, MPH
Kezang Tshering, BA
Members
Amal Aburayyan
Guney Bademci, MD
Paula Buonfiglio, PhD
Alexander Chapin, PhD
Cherine Charfeddine, PhD
Viviana Dalamón, PhD
Ignacio del Castillo, PhD
Lilian Downie, PhD
Hatice Duzkale, MD, MPH, PhD
Rabia Faridi, PhD
Minjie Luo, PhD
Tatsuo Matsunaga, MD, PhD
Miguel Angel Moreno Pelayo, PhD
Seda Nur Homurlu
Kok-Siong Poon, PhD, MSc, MHGSA
Shelby Redfield, MS, CGC
Heidi Rehm, PhD
Isabelle Roux, PhD
Isabelle Schrauwen, PhD
Sherin Shaaban, MD, PhD, FACMG
Barbara Vona, PhD
Hongen Xu
Junyu Zhang, PhD
Past Members
Ellie Broeren, BA
Enyonam Edoh, BS
Amanda Girod, BA
Andrew Grant
Madeline Hughes, BA
Hannah McCurry, BS
Mayher Patel, BA
Zhiyu Peng, PhD
Rebecca Siegert
Ryan Webb, BS
Emma Wilcox, BA
Wenying Zhang, MD, PhD, BA, FACMG
Chairs
Coordinators
Please contact a coordinator if you have questions.