Activity
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8 actions
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| Congenital disorders of glycosylation v7.8 | UGGT1 | Achchuthan Shanmugasundram Classified gene: UGGT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v7.8 | UGGT1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (10 unrelated families and functional evidence) for the promotion of this gene to green rating in this panel on the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v7.8 | UGGT1 | Achchuthan Shanmugasundram Gene: uggt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v7.7 | UGGT1 | Achchuthan Shanmugasundram Phenotypes for gene: UGGT1 were changed from intellectual disability; seizures; characteristic facial features; microcephaly; congenital heart malformations, variable skeletal abnormalities; hepatic and renal involvement; polycystic kidneys to congenital disorder of glycosylation, MONDO:0015286 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v7.6 | UGGT1 | Achchuthan Shanmugasundram Publications for gene: UGGT1 were set to PMID: 40267907 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v7.5 | UGGT1 |
Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: UGGT1. Tag Q3_25_NHS_review tag was added to gene: UGGT1. |
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| Congenital disorders of glycosylation v7.5 | UGGT1 | Achchuthan Shanmugasundram reviewed gene: UGGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 40267907; Phenotypes: congenital disorder of glycosylation, MONDO:0015286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v7.5 | UGGT1 |
Karen Stals gene: UGGT1 was added gene: UGGT1 was added to Congenital disorders of glycosylation. Sources: Literature Mode of inheritance for gene: UGGT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UGGT1 were set to PMID: 40267907 Phenotypes for gene: UGGT1 were set to intellectual disability; seizures; characteristic facial features; microcephaly; congenital heart malformations, variable skeletal abnormalities; hepatic and renal involvement; polycystic kidneys Review for gene: UGGT1 was set to GREEN gene: UGGT1 was marked as current diagnostic Added comment: Dardas et al report biallelic UGGT1 variants in 10 families (15 individuals), with more severe phenotypes seen with biallelic loss of function variants. UGGT1 variants were shown to impair UGGT1 glycosylation and catalytic activity. Sources: Literature |
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