Low Penetrance/Risk Allele
The Low-Penetrance/Risk Allele Working Group aims to develop a consensus on the terminology needed to categorize both risk alleles and low-penetrance Mendelian variants and to develop a standardized classification framework to evaluate these types of variants.
The "Recommendations for Risk Allele Evidence Curation, Classification, and Reporting from the ClinGen Low Penetrance/Risk Allele Working Group" publication is now available.
Chairs
Coordinators
Please contact a coordinator if you have questions.
Documents
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Recommended Terminology for Variants with Decreased Penetrance for Mendelian ConditionsSupporting Documents - February 18, 2020 - Recommendations from the ClinGen Low-Penetrance/Risk Allele Working Group on the terminology needed to categorize both risk alleles and low-penetrance Mendelian variants.
Working Group Membership
Membership spans many fields, including genetics, medical, academia, and industry.
Matthew Lebo, PhD
Ryan Schmidt, MD, PhD
Marcie Steeves, MS, CGC
Pinar Bayrak-Toydemir, MD, PhD, FACMG
Katherine Benson, PhD
Alicia Byrne, PhD
Wuyan Chen, PhD
Bradley Coe
Laura Conlin, PhD, FACMG
Fergus J. Couch, PhD
Hannah Dziadzio, BA
Yuxin Fan, MD, PhD, FACMG
John Garcia, PhD
Michael Gollob, MD
Emily Groopman, MD, PhD
Vaidehi Jobanputra, PhD, FACMG, MS
Minjie Luo, PhD
Elaine Lyon, PhD
Deqiong Ma, MD, PhD
Glenn Maston, PhD
Kelly McGoldrick, PhD
Jessica Mester, MS, CGC
Tina Pesaran, MA, MS, CGC
Daniel Pineda-Alvarez, MD
Toni I. Pollin, PhD, CGC
Erin Rooney Riggs, MS, CGC
Panagiotis Sergouniotis, MD, PhD
Nicholas Watkins, CGC
Lauren Zec, MS, LCGC
Wenying Zhang, MD, PhD, FACMG
Erica Andersen, PhD
Jonathan Berg, MD, PhD
Ozge Ceyhan Birsoy, PhD
Tracy Brandt, Ph.D., FACMG
Chimene Kesserwan, MD
Christa Lese Martin, PhD, FACMG
Ozlem Senol-Cosar, PhD
Rebecca Siegert
Marsha Speevak PhD, FCCMG, FACMG