The gene GPHN, LOC130055900, PIGH (gephyrin| ATAC-STARR-seq lymphoblastoid active region 8583| phosphatidylinositol glycan anchor biosynthesis class H) on Chromosome 14 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Glycosylphosphatidylinositol biosynthesis defect 17