These included PTMS (parathymosin), a chromatin remodelling protein essential for cell cycle progression and proliferation of normal and malignant cells, MKS1 (Meckel syndrome, type 1), mutations in which are associated with a malformation of central nervous system known as Meckel syndrome, and SPDEF and a probe set for C19orf50. This evidence concerns the gene KXD1 and Meckel syndrome.