ALG10 was first reported in relation to autosomal recessive congenital disorder of glycosylation in 2018 (Courage et al., PMID: 33798445). One unique frameshift variant that has been reported in one proband in one publication is included in this curation. The proband also had a homozygous variant in ALG10B, which could not be ruled out as a contributing factor to the proband’s phenotype. This gene-disease relationship is also supported by a yeast model (Burda et al, PMID: 9597543) showing that ALG10 is required for the terminal glucosylation step of the lipid-linked core oligosaccharide. 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 April 3, 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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