GFUS was first reported in relation to autosomal recessive congenital disorder of glycosylation in 2021 (Feichtinger et al., PMID 34468083). Two variants (missense) that have been reported in a single proband (PMID 34468083) are included in this curation. Symptoms including global developmental delay, mild coarse facial features, and short stature were reported. Evidence supporting this gene-disease relationship includes case-level data and experimental data. This gene-disease relationship is supported by in vitro and in vivo assays showing a defect in fucosylation (PMIDs 34468083) as well as a mouse model (PMID 12186857). 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. This classification was approved by the ClinGen Congenital Disorder of Glycosylation Expert Panel on the meeting date 8//7/2025 (SOP Version 11).
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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