Affected Gene: ADAMTS20
Inheritance: Autosomal Recessive with variable expression
Mutation: CanFam3.1 27g.10553479_10553480del c.1358_1359delAA p.(K453Ifs*4)
OMIA link: OMIA001140/9615

Appropriate breeds for testing: Nova Scotia Duck Tolling Retriever

References
Wolf ZT, Brand HA, Shaffer JR, Leslie EJ, Boaz A, Willet CE, Cox TC, McHenry T, Narayan N, Feingold E, Wang X, Sliskovic S, Karmi N, Safra N, Sanchez C, Deleyiannis FWB, Murray JC , Wade CM, Marazita ML, Bannasch DL. Genome-Wide Association Studies in Dogs and Humans Identify ADAMTS20 as a Risk Variant for Cleft Lip and Palate. PLoS Genet. 2015 Mar 23;11(3):e1005059. doi: 10.1371/journal.pgen.1005059. [PubMed: 25798845]