SLC52A1 was reported in relation to autosomal dominant maternal riboflavin deficiency in 2011 (Ho et al., PMID 21089064). At least 5 variants (e.g. large deletion, intronic, missense) 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 at least 5 probands in 3 publications (PMIDs 21089064, 29122468, 37510312). This gene-disease association is supported by expression studies and in vitro functional assays. In summary, there is moderate evidence to support this gene-disease relationship. While more evidence is needed to establish this relationship definitively, no convincing contradictory evidence has emerged. This gene-disease pair was originally evaluated by the Fatty Acid Oxidation Disorders GCEP on October 12, 2018. It was reevaluated on April 23, 2024. As a result of this reevaluation, the classification increased from Limited to Moderate with the addition of new cases (PMID: 37510312). This classification was approved by the ClinGen Fatty Acid Oxidation Disorders GCEP on April 23,2024 (SOP Version 10.1).
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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