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| Congenital Disorders of Glycosylation v0.69 | XYLT2 | Zornitza Stark Marked gene: XYLT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.69 | XYLT2 | Zornitza Stark Gene: xylt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.69 | XYLT2 | Zornitza Stark Phenotypes for gene: XYLT2 were changed from to Spondyloocular syndrome MIM# 605822 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.68 | XYLT2 | Zornitza Stark Classified gene: XYLT2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.68 | XYLT2 | Zornitza Stark Gene: xylt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.57 | XYLT2 | Paul De Fazio edited their review of gene: XYLT2: Changed phenotypes: Spondyloocular syndrome MIM# 605822 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.57 | XYLT2 |
Paul De Fazio gene: XYLT2 was added gene: XYLT2 was added to Congenital Disorders of Glycosylation. Sources: Literature Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XYLT2 were set to 26027496; 26987875; 30891060; 28484880 Review for gene: XYLT2 was set to GREEN gene: XYLT2 was marked as current diagnostic Added comment: 5 unrelated individuals/families in total described with Spondylo-Ocular Syndrome (PMID: 26027496, 26987875, 30891060). XYLT2-CDG has been referred to as a "proteoglycan ‘linker’ glycan disorder" (PMID: 28484880) Sources: Literature |
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