Abstract
The Clinical Genome Resource (ClinGen) has established a Retina Gene Curation Expert Panel (GCEP) to evaluate the clinical validity of more than 200 genes implicated in inherited retinal disorders (IRD). Defining the disease entity for gene curation has presented a challenge for this group due to the significant clinical and genetic heterogeneity associated with IRD; these disorders can be non-syndromic (ie, affecting only the eye) or they can occur with additional manifestations as part of a syndrome.
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