Exome & General Genetics/Rare Disease
Session # P295
Case report with biallelic variants in GCNT2 implicates exon 1B in congenital cataracts
Presenting Author: Audrey O'Neill, PhD
Take home points:
- This is the first report of a disease-associated variant limited to exon 1B of GCNT2.
- This case, in combination with other supportive evidence, strongly implicates isoform B (NM_001491.3 ) as a clinically relevant transcript for congenital cataracts.
- Authors: Audrey O’Neill; Cindy Bayer; Emily McQuillen; Erica Smith; Meghan Towne; Dallas Reed
- Conference: ACMG 2026
- Date: Thursday, Mar 12, 2026 10:30am - 11:30am