SPATA13 was first reported in relation to autosomal dominant primary angle closure glaucoma (PACG) in 2020 (Waseem et al., PMID: 32339198). PACG disorders include physical obstruction of the aqueous humor outflow channels, elevation of internal eye pressure, ocular hypertension, plateau iris configuration, iridocorneal angle closure, drainage angle damage, and end-organ glaucomatous damage. *SPATA13 *contains 1,339 amino acids and 14 exons, and functions as a guanine nucleotide exchange factor. There is only one disease assertion made for SPATA13; Primary Angle Closure Glaucoma (618880). Summary of Genetic Evidence (2.1 points): One 9-base-pair deletion was found in all affected individuals (n=12) from one family in one publication (PMID: 32339198). The mechanism of pathogenicity appears to be loss of function. Summary of Experimental Evidence (0 points): This gene-disease relationship is supported by an expression study (PMID: 32339198) revealing expression of SPATA13 in eye tissue including the human iris, ciliary epithelium, retinal pigment epithelium, retina and lens; however, the study also suggested a ubiquitous expression pattern of SPATA13, confirmed by GTex (https://gtexportal.org/home/gene/SPATA13). In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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