Hearing Loss Clinical Domain Working Group

Affiliated to Clinical Domain Working Group

Expert Panels
Documents & Announcements
Members

The Hearing Loss Working Group aims to create a comprehensive, standardized knowledge base of genes and variants relevant to syndromic and nonsyndromic hearing loss.

Goals:

Identify and recruit hearing loss experts with expertise in racially/ethnically/regionally diverse populations throughout the world.
Develop and implement a variant assessment framework for hearing loss genes.
Implement the variant assessment framework to resolve discrepancies in variant interpretations in ClinVar.
Establish a group with Expert Panel status for variant submission to ClinVar.
Curate and adjudicate genes associated with hearing loss using ClinGen's Gene Curation Working Group's "Clinical Validity Classifications."
Disseminate expert consensus gene and variant curation results via ClinVar, ClinGen's website, and publications.

Related Manuscripts:

Expert Panels

Hearing Loss Gene Curation Expert Panel	Status -
Hearing Loss Variant Curation Expert Panel	Status - Step 4

Documents & Announcements

Approved ACMG/AMP Classification Rules Specified for Hearing Loss Now Available

May. 15 2018

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Hearing Loss CDWG Membership
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Executive Leadership

Coordinators

- Andrea Oza, MS, CGC

Members

Name	Role
Ahmad Abou Tayoun, PhD	Executive Leadership
Sami Amr, PhD	Executive Leadership
Heidi Rehm, PhD	Executive Leadership
Andrea Oza, MS, CGC	Coordinator
Sonia Abdelhak, PhD	Member
John Alexander, PhD	Member
Karen B. Avraham, PhD	Member
Hela Azaiez, PhD	Member
Elizabeth Black-Ziegelbein	Member
Kevin Booth	Member
Lucas Bronicki, PhD	Member
Zippi Brownstein, PhD	Member
Rachel Burt, PhD	Member
Alexander Chapin, PhD	Member
Parna Chatteraj	Member
Ignacio del Castillo, PhD	Member
Marina DiStefano, PhD	Member
Lilian Downie, PhD	Member
Hatice Duzkale, MD, MPH, PhD	Member
Sean Ephraim	Member
Thomas Friedman, PhD	Member
Anne Giersch, PhD	Member
Andrew Grant	Member
John Greinwald, MD	Member
Andrew Griffith, MD, PhD	Member
Amy Hernandez, MS, CGC	Member
Jeffrey Holt, PhD	Member
Makoto Hosoya, MD, PhD	Member
Margaret Kenna, MD, MPH	Member
Un-Kyung Kim, PhD	Member
Diana Kolbe, PhD	Member
Ian Krantz, MD	Member
Hannie Kremer, PhD	Member
Suzanne Leal, PhD	Member
Xue Liu, PhD	Member
Minjie Luo, PhD	Member
Rong Mao, MD	Member
Saber Masmoudi, PhD	Member
Tatsuo Matsunaga, MD, PhD	Member
Miguel Angel Moreno Pelayo, PhD	Member
Matías Morín, PhD	Member
Cynthia Morton, PhD	Member
Hideki Mutai, PhD	Member
Arti Pandya, MD, MBA	Member
Christine Petit, MD, PhD	Member
Jessica Ratay, MS, CGC	Member
Jun Shen, PhD	Member
Rebecca Siegert	Member
Richard Smith, MD	Member
Mustafa Tekin, MD	Member
Lisbeth Tranebjærg, MD, PhD	Member
Shin-ichi Usami, MD, PhD	Member
Guy Van Camp, PhD	Member
Kazuki Yamazawa, MD, PhD	Member
Tao Yang, PhD	Member
Huijun Yuan, PhD	Member
Wenying Zhang, MD, PhD	Member
Kejian Zhang, MD, MBA	Member

Leadership

Ahmad Abou Tayoun, PhD

Sami Amr, PhD

Heidi Rehm, PhD

Coordinators

Please contact a coordinator if you have questions.

Andrea Oza, MS, CGC
amoza@partners.org

Membership

Membership in this committee spans many fields, including genetics, medical, academia, and industry. [View Members]
For more information, please contact:

Andrea Oza, MS, CGC
amoza@partners.org

What is GENE CURATION?

A systematic process of evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease.

What is VARIANT CURATION?

A systematic process of evaluating evidence to classify a genomic variant on a spectrum from pathogenic to benign with respect to a particular disease and inheritance pattern.

Clinical Domain Working Group