Categories: Haematopoietic system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 262850 (trait) , 613168 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal dominant with incomplete penetrance

Considered a defect: yes

Key variant known: no

Cross-species summary: Bleeding disorder

Species-specific symbol: DEPOH

Mapping: Court et al. (2023): "Genome-wide association analysis [in 8 affected and 17 control Scottish Deerhounds] identified a single locus on chromosome 9 spanning 40 genes . One of these genes (SERPINF2 encoding alpha-2 antiplasmin) was directly linked to the pathophysiology of DEPOH."

Molecular basis: Court et al. (2023): "The entire cohort [of 72 Scottish Deerhounds] was genotyped for a missense SERPINF2 variant (c.605 C>T; p.A202V). Compared to dogs with the reference C/C genotype, the likelihood of DEPOH was significantly higher for dogs with the T/T genotype (odds ratio [OR] = 1235; 95% confidence interval [CI] = 23-6752; P = 0.0005) and with the C/T genotype (OR = 28; 95% CI = 1.4-542; P = 0.03). ... The SERPINF2 haplotype marker we used in this study does alter the alpha-2 antiplasmin protein sequence. However, preliminary computational analysis indicates that this amino acid substitution is not likely to have a major effect on biological function. Consequently, this marker might only be useful for predicting the risk for DEPOH in Scottish deerhounds, and not for other breeds (such a greyhounds), which could have a different haplotype structure."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Breeds: Greyhound (Dog) (VBO_0200638), Scottish Deerhound (Dog) (VBO_0201195).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Associated gene: