Clinical Domain Working Groups

Optic Nerve Atrophy Variant Curation Expert Panel

Membership

This panel will focus on developing rules and specifications for the genetic causes of inherited optic neuropathies.  Inherited optic neuropathies are genetically and phenotypically heterogeneous.  Collectively, these conditions are important cause of inherited vision loss.  The initial focus of this panel with for be for gene gene OPA1.  This gene is recognized as the most common cause of autosomal dominant optic atrophy thus making it the important initial gene for the VCEP to evaluate.  Following OPA1, panel will consider other rarer genetic causes of autosomal recessive optic atrophy including but not limited to TMEM126A, ACO2 and RTN4IP1.

Expert Panel Status

Step 1
Step 2
Step 3
Step 4
Define Group
Completed Feb. 2021
Develop Classification Rules
Completed Jun. 2021
Pilot Rules
In progress
Expert Panel Approval

Expert Panel Membership

Membership spans many fields, including genetics, medical, academia, and industry.