Clinical Domain Working Groups
Hearing Loss Variant Curation Expert Panel
Membership DocumentsThe ClinGen Hearing Loss Expert Panel represents members at over 15 institutions across 4 continents, with a diverse array of backgrounds, including physicians (clinical geneticists, otolaryngologists, neuro-otologists,), clinical laboratory diagnosticians, and clinical and basic research scientists and genetic counselors. All members have a focus on the genetics and genomics of hearing loss.
The Hearing Loss Expert Panel aims to specify the existing ACMG guidelines for variant classification in hearing loss genes and review variants for expert classification including resolving discrepancies in existing variant classification in ClinVar prioritizing the most common genes and variants associated to hearing loss.
Expert Panel Status
Documents
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ClinGen Hearing Loss Variant Curation Expert Panel COIConflict Of Interest (COI) - August 25, 2022
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ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation GuidelinesCuration Activity Procedures - March 29, 2022 - ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CDH23, COCH, GJB2, KCNQ4, MYO6, MYO7A, SLC26A4, TECTA and USH2A (Version 2) and for OTOF and MYO15A (Version 1) Archived Document
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Evaluating the impact of in silico predictors on clinical variant classificationPublications - August 10, 2021
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Expert Interpretation of Genes and Variants in Hereditary Hearing LossPublications - September 16, 2020
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Expert Panel Membership
Membership spans many fields, including genetics, medical, academia, and industry.
Ahmad Abou Tayoun, PhD
Sami Amr, PhD
Hela Azaiez, PhD
Kelley Paris, BS
Pamela Ajuyah Robertson, PhD
Paula Buonfiglio, PhD
Marina DiStefano, PhD, FACMG
Marina Dutra-Clarke, MS, CGC
Vanessa Gitau, BA
Luke Mansard
Andrea Oza, MS, CGC
Julie Ratliff, BS, MPH
Kezang Tshering, BA
Guney Bademci, MD
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
Karen B. Avraham, PhD
Ellie Broeren, BA
Enyonam Edoh, BS
Amanda Girod, BA
Andrew Grant
Madeline Hughes, BA
Hannah McCurry, BS
Chloe Mighton
Mayher Patel, BA
Zhiyu Peng, PhD
Rebecca Siegert
Kayla Socarras, PhD
Ryan Webb, BS
Emma Wilcox, BA
Kejian Zhang, MD
Wenying Zhang, MD, PhD, BA, FACMG