Monogenic Diabetes Clinical Domain Working Group


​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. 



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 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.