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
Expert Panel Membership
Membership spans many fields, including genetics, medical, academia, and industry.
Ahmad Abou Tayoun, MSc, PhD, FACMG
Sami Amr PhD
Hela Azaiez MSc, PhD
Kelley Paris BS
Pamela Ajuyah Robertson PhD
Guney Bademci, MD, FACMG
Cherine Charfeddine MS, PhD
Ignacio del Castillo MSc, PhD
Marina DiStefano PhD, FACMG
Lilian Downie MBBS FRACP PhD
Rabia Faridi PhD
Vanessa Gitau BA
Qiaoning Guan PhD, FACMG
Haixian He MD
Yu Lu MMSc
Luke Mansard MD
Rahma Mkaouar PhD
Shin-ya Nishio PhD
Seda Nur Homurlu MSc
Kok Siong Poon, PhD, MHGSA
Julie Ratliff BSc, MPH
Heidi Rehm, PhD, FACMG
Isabelle Roux, PhD, DABMGG LGG
Sherin Shaaban MD, PhD, FACMG
Kezang Tshering BA
Barbara Vona, PhD
Hongen XU PhD
Junyu Zhang PhD