Meckel-Gruber Syndrome Panel

Meckel–Gruber syndrome is a lethal autosomal recessive congenital anomaly syndrome caused by pathogenic variants in genes encoding proteins that are structural or functional components of the primary cilium. Primary cilia are essential for vertebrate development, and pathogenic variants affecting this organelle underlie a large group of human malformation syndromes, the ciliopathies. Meckel Gruber syndrome is the most common syndromic form of neural tube defect and the classic triad of clinical features is characterized by occipital encephalocele, cystic kidneys and fibrotic changes to the liver. The clinical phenotype has since been broadened to include features such as postaxial polydactyly, skeletal dysplasia, microphthalmia, genital anomalies, cleft lip and palate, and heart defects. The panel includes sequence and deletion/duplication analysis of all the listed genes.