GLT8D1 was first reported in relation to autosomal dominant amyotrophic lateral sclerosis in 2019 (Cooper-Knock J et al., PMID:30811981). At least 14 unique variants, including missense, synonymous and frameshift variants, have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data and experimental data.
Variants in this gene have been reported in 22 probands in 7 publications (PMID:30811981, 35525134, 34746377, 33714647, 31653410, 35873773, 33581933), but many were not scored in this curation due to a population frequency too high to be consistent with disease.
This gene-disease relationship has been studied in at least two case-control studies (PMID:30811981). An aggregate variant analysis of the* GLT8D1* exon 4 burden showed that when exon 4 is excluded from burden analysis, no significant association with ALS is found. The test only included variants which were present in <1/10,000 of ExAC. A single variant analysis association study of the R29C variant showed an odds ratio of 54, although w
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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