Clinical Domain Working Groups

The Anterior Segment Dysgenesis Variant Curation Expert Panel aims to develop variant classification criteria adapted from the ACMG/AMP guidelines for anterior segment dysgenesis -associated genes. The current scope of the Anterior Segment Dysgenesis VCEP is to curate variants for PAX6, PITX2 and FOXC1. Each of these genes is associated with autosomal dominant inheritance and each of the genes have been associated with several phenotypes. The Glaucoma and Neuro-Ophthalmology GCEP has reviewed these genes and decided for each gene the ocular phenotypes are to be lumped into one disease entity. This VCEP will focus on developing variant curation guidelines for PAX6-related ocular dysgenesis, FOXC1-related anterior segment dysgenesis and PITX2-related anterior segment dysgenesis.