PTCH1 and coloboma: In conclusion, we report seven novel and one recurrent potentially disease-causing variants in C/M-associated genes CRIM1, CHD7, FAT1, PUF60, BRPF1, and PTCH1, as well as the candidate gene TGFB2. Our findings expand the phenotype associated with FAT1, BRPF1, and TGFB2 and implicate TGFB2 as an additional candidate gene for coloboma.