Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card

Abstract

1. Name of the disease (synonyms): Primary congenital glaucoma (PCG). Glaucoma, congenital (GLC). 2. OMIM# of the disease: 231300- GLC3A. 600975- GLC3B. 613085- GLC3C. 613086- GLC3D. 617272- GLC3E. 3. Name of the analysed genes or DNA/chromosome segments: CYP1B1. LTBP2. MYOC. FOXC1. TEK. 4. OMIM# of the gene(s): CYP1B1 MIM# 601771. LTBP2 MIM# 602091. MYOC MIM# 601652. FOXC1 MIM# 601090. TEK MIM# 600221. Review of the analytical and clinical validity, as well as of the clinical utility of DNA-based testing for variants in theCYP1B1, LTBP2andMYOCgene(s) in.