AGXT was first reported in relation to autosomal recessive alanine glyoxylate aminotransferase deficiency in 1991 (Nishiyama K et al., PMID: 2039493). At least 28 variants (e.g. missense, in-frame indel, nonsense, frameshift, etc) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data, segregation data, and experimental data. Summary of Case Level and Experimental Data: 16.5 points. Variants in this gene have been reported in at least 24 probands in 9 publications (PMIDs: 26383609, 8101040, 30341509, 27915025, 27659337, 2039493, 1349575, 18810341, 16931222). Variants in this gene segregated with disease in 3 additional family members. The gene-disease association is supported by animal models and expression studies. In summary, AGXT is definitively associated with autosomal recessive alanine glyoxylate aminotransferase deficiency. This has been repeatedly demonstrated in both the research and clinical diagnostic settings, and has been upheld over time.
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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