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.
| 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 |
Please contact a coordinator if you have questions.
Ruth Cosentino, MS, MT ASCP
rcosenti@som.umaryland.edu
Ruth Cosentino, MS, MT ASCP
rcosenti@som.umaryland.edu
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.
