Given this context: Chromosome 3, gene POMGNT2 (protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8