Activity
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11 actions
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| Intellectual disability v9.302 | UGGT1 |
Arina Puzriakova Tag Q3_25_promote_green was removed from gene: UGGT1. Tag Q3_25_NHS_review was removed from gene: UGGT1. |
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| Intellectual disability v9.299 | UGGT1 | Arina Puzriakova reviewed gene: UGGT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.298 | UGGT1 |
Arina Puzriakova Source NHS GMS was added to UGGT1. Source Expert Review Green was added to UGGT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v9.102 | UGGT1 | Achchuthan Shanmugasundram Classified gene: UGGT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.102 | UGGT1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of biallelic UGGT1 variants with intellectual disability (six families with severe ID). Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.102 | UGGT1 | Achchuthan Shanmugasundram Gene: uggt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.101 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.100 | UGGT1 | Achchuthan Shanmugasundram Publications for gene: UGGT1 were set to PMID: 40267907 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.99 | 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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| Intellectual disability v9.99 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.92 | UGGT1 |
Karen Stals gene: UGGT1 was added gene: UGGT1 was added to Intellectual disability. 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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