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Category: Haemolymphatic - Associated with the blood and lymph

Gene: ANO6

Variant Detected: g.8912219 G>A

Severity: Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance: Autosomal Recessive

Test Overview: A rare defect seen in the platelet procoagulant activity. Clinical signs of epistaxis, hyphema, intramuscular hematoma, and prolonged bleeding with cutaneous bruising after surgery.

Research Citation(s): Brooks, M.B., Catalfamo, J.L., MacNguyen, R., Tim, D., Fancher, S., McCardle, J.A. : A TMEM16F point mutation causes an absence of canine platelet TMEM16F and ineffective activation and death-induced phospholipid scrambling. J Thromb Haemost 13:2240-52, 2015. Pubmed reference: 26414452. DOI: 10.1111/jth.13157.
Jandrey, K.E., Norris, J.W., Tucker, M., Brooks, M.B. : (2012) Clinical characterization of canine platelet procoagulant deficiency (Scott syndrome). J Vet Intern Med 26:1402-7, 2012. Pubmed reference: 23061683. DOI: 10.1111/j.1939-1676.2012.01012.x.

Associated Breed(s): German Shepherd Dog,  Mixed Breed,  White Swiss Shepherd,