TUSC3 was first reported in relation to autosomal recessive Intellectual disability in 2008 (Molinari et al. and Garshasbi et al., PMIDs: 18455129, 18452889). At least 9 unique variants (missense, nonsense, large deletions, etc.) have been reported in humans. Of note, large deletions cannot be entered into the Gene Curation Interface at this time but have been observed in probands with Intellectual disability (PMIDs: 28397838, 18452889, 23825019). Case-level evidence supports this gene-disease relationship. In summary, TUSC3 is definitively associated with autosomal recessive Intellectual disability. 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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