Monogenic Diabetes Variant Curation Expert Panel

Affiliated to Inborn Errors of Metabolism Clinical Domain Working Group

Status
Members

The Monogenic Diabetes Expert Panel will develop a sustainable process for systematic consensus review for pathogenicity and submission to ClinVar of MODY, neonatal diabetes genes, Wolfram syndrome, mitochondrial diabetes and other syndromic genes agreed upon by consensus.

Expert Status - In progress

Step 1

Step 2

Step 3

Step 4

Define Group
Complete

Develop Classification Rules
In progress

Pilot Rules

Expert Panel Approval

Monogenic Diabetes EP Membership
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Grid View

Name	Role
Toni I. Pollin, PhD, CGC	Executive Leadership
Linda Jeng, MD, PhD FACMG	Executive Leadership
Ruth Cosentino, MS, MT ASCP	Coordinator
Soma Das, PhD	Member
Sian Ellard, PhD, FRCPath	Member
Elizabeth Streeten, MD	Member
Yue Guan, PhD CGC	Member
Andrew Hattersley, FRCP FMedSci FRS	Member
Kevin Colclough, BS	Member
Louis Philipson, MD PhD	Member
Rochelle N. Naylor, MD	Member
Siri Greeley, MD, PhD	Member
Daniela del Gaudio, PhD FACMG	Member
Darrel Waggoner, MD FACMG	Member
Rinki Murphy, MD	Member
Andrea Ramirez, MD	Member
Janet Williams, MS LGC	Member
David Carey, PhD	Member
Jessica Goehringer, MS LGC	Member
Uyenlinh Mirshahi, PhD	Member
Liana Billings, MD, MMSc	Member
Brady Gaynor, MS	Member
Haichen Zhang, MS	Member
Kristin Maloney, MS, MGC, CGC	Member
Courtney Thaxton, PhD	Member
Lisa Letourneau, MPH, RD, LDN	Member
Gabriele Richard, MD, FACMG	Member
Oscar Cano	Member
Wendy Chung	Member
Tiinamaija Tuomi, MD, PhD	Member
Stepanka Pruhova, PhD	Member
Ivan McGowan, BSc, MHGSA, MIT	Member
Fumihiko Urano, MD, PHD	Member
Josep Oriola, PhD	Member
Miriam Udler, MD, PhD	Member
Milena Teles, MD, PhD	Member
Benjamin Glaser, MD	Member
Daniela Gašperiková, DrSc	Member
Sabrina Prudente, PhD	Member
Wojciech Młynarski, MD, PhD	Member
Soo Heon Kwak, MD, PhD	Member
Petra Dusatkova, MSc, PhD	Member
Cécile Saint-Martin, PhD	Member
Christine Bellanné-Chantelot, MCU-PH	Member
Wuyan Chen, PhD	Member
Camilla Valtonen-André, MD, PhD	Member
Wim Wuyts, PhD	Member
Martina Skopkova, PhD	Member
Brissa Martin, MS, LCGC	Member
Rishona Lavy, MS, CGC	Member
Sarah Isken	Member
Heike Torkler	Member
Kathrin Buning	Member
Sheila Saliganan, MS, CGC	Member
Janne Molnes, PhD	Member

Leadership

Toni I. Pollin, PhD, CGC

Linda Jeng, MD, PhD FACMG

Coordinators

Please contact a coordinator if you have questions.

Ruth Cosentino, MS, MT ASCP
rcosenti@som.umaryland.edu

Membership

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

Ruth Cosentino, MS, MT ASCP
rcosenti@som.umaryland.edu

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