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.
|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|
|Shruthi Mohan, Ph.D.||Member|
Please contact a coordinator if you have questions.
A systematic process of evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease.