MGAT2 was first reported in relation to MGAT2-congenital disorder of glycosylation in 1996 (Tan et al., PMID: 8808595). Seven unique variants (missense, nonsense, and frameshift) that have been reported in seven probands in six publications are included in this curation. This gene-disease relationship is also supported by two mouse models – a full gene knockout (Wang et al., PMID: 11805078, Wang et al., PMID:12417412) and a targeted knockout (Ryan et al., PMID: 24310166). 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. Of the few reports of prenatally diagnosed MGAT2-CDG, hydrops fetalis has been described in one case (PMID: 28742265) and a single case of preterm birth (PMID: 33044030) was separately reported. There is insufficient evidence to establish causation of a prenatal phenotype. This classification was approved by the ClinGen Congenital Disorders of Glycosylation GCEP on the meeting date November 7, 2024 (SOP Version 11).
MGAT2 was first reported in relation to MGAT2-congenital disorder of glycosylation in 1996 (Tan et al., PMID: 8808595). Seven unique variants (missense, nonsense, and frameshift) that have been reported in seven probands in six publications are included in this curation. This gene-disease relationship is also supported by two mouse models – a full gene knockout (Wang et al.,PMID: 11805078, Wang et al., PMID:12417412) and a targeted knockout (Ryan et al., PMID: 24310166). 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 classification was approved by the ClinGen Congenital Disorders of Glycosylation GCEP on the meeting date November 7, 2024 (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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