The Intellectual Disability/ Autism Gene Curation Expert Panel is focused on defining the genes in which pathogenic variants clearly cause intellectual disability and/or autism. The gene-disease validity curation process includes 6 classification categories describing the level of evidence supporting a given gene-disease relationship: Definitive, Strong, Moderate, Limited, Disputed, Refuted.
ClinGen Gene Curation Standard Operating Procedures | View |
Name | Role |
---|---|
David Miller, MD, PhD | Executive Leadership |
Christian Schaaf, MD, PhD, FACMG | Executive Leadership |
Erin Rooney Riggs, MS, CGC | Coordinator |
Kelly Toner, MA | Coordinator |
Rhea Behlmann, PhD, MB | Member |
Bret Bostwick, MD | Member |
Chun-An Chen, PhD | Member |
Alberto di Ronza, PhD | Member |
Courtney Thaxton, PhD | Member |
Mari Tokita, PhD | Member |
Jiani Yin, PhD | Member |
Xinming (Ming) Zhuo, PhD | Member |
Andrew Grant | Member |
Rebecca Siegert | Member |
Shruthi Mohan, Ph.D. | Member |
Tam Sneddon | Member |
Christin Collins | Member |
Mythily Ganapathi | Member |
Olivia Rennie | Member |
Kira Dies | Member |
Jennifer Howe | Member |
Ny Hoang | Member |
Catalina Betancur | Member |
Jacob Vorstman | Member |
Madeline Hughes | Member |
ClinGen Intellectual Disability and Autism Gene Curation Expert Panel Conflict of Interest Declaration | View |
Christian Schaaf, MD, PhD, FACMG
Please contact a coordinator if you have questions.
Erin Rooney Riggs, MS, CGC
eriggs@geisinger.edu
Kelly Toner, MA
ktoner1@geisinger.edu
Erin Rooney Riggs, MS, CGC
eriggs@geisinger.edu
Kelly Toner, MA
ktoner1@geisinger.edu
A systematic process of evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease.