FCSK was first reported in relation to autosomal recessive congenital disorder of glycosylation with defective fucosylation 2 in 2018 (Ng et al., PMID: 30503518). Six unique variants (missense and frameshift) that have been reported in five probands in four publications are included in this curation. This gene-disease relationship is also supported by the biochemical function of FCSK, which is a fucokinase that functions in the salvage pathway to generate GDP-fucose. Both a proband and a CRISPR/Cas9-based cell line knockout model exhibited defects in fucokinase activity (Ng et al., PMID: 30503518). 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 Disorders of Glycosylation GCEP on the meeting date September 18, 2024 (SOP Version 10).
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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