Genes which may contribute to the development of cardiovascular malformations associated with 1p36 deletions include DVL1, SKI, RERE, PDPN, SPEN, CLCNKA, ECE1, HSPG2, LUZP1, and WASPF2. Genes which may contribute to the development of cardiomyopathy associated with 1p36 deletions include SKI, PRKCZ, PRDM16, RERE, UBE4B and MASP2. The cardiac-related phenotypes associated with each of these genes in humans, mice and zebrafish are summarized in Tables 7 and 8. This evidence concerns the gene SPEN and cardiomyopathy.