Activity
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10 actions
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| Likely inborn error of metabolism v8.111 | UGGT1 | Ida Ertmanska Added comment: Comment on phenotypes: Phenotype updated 22nd Apr 2026. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.111 | UGGT1 | Ida Ertmanska Phenotypes for gene: UGGT1 were changed from congenital disorder of glycosylation, MONDO:0015286 to Congenital disorder of glycosylation, type IICC, OMIM:621381; congenital disorder of glycosylation, type IIcc, MONDO:0980705 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.94 | UGGT1 | Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: UGGT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.94 | UGGT1 | Achchuthan Shanmugasundram commented on gene: UGGT1: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.93 | UGGT1 |
Achchuthan Shanmugasundram 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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| Likely inborn error of metabolism v8.72 | UGGT1 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available (10 unrelated families and functional evidence) for the association of this gene with congenital disorders of glycoylation panel (https://panelapp.genomicsengland.co.uk/panels/25/gene/UGGT1/). Hence, this gene should be promoted to green rating in this panel on the next GMS update.; to: Comment on list classification: There is sufficient evidence available (10 unrelated families and functional evidence) for the association of this gene with congenital disorders of glycosylation panel (https://panelapp.genomicsengland.co.uk/panels/25/gene/UGGT1/). Hence, this gene should be promoted to green rating in this panel on the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.72 | UGGT1 | Achchuthan Shanmugasundram changed review comment from: 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.; to: Comment on list classification: There is sufficient evidence available (10 unrelated families and functional evidence) for the association of this gene with congenital disorders of glycoylation panel (https://panelapp.genomicsengland.co.uk/panels/25/gene/UGGT1/). Hence, this gene should be promoted to green rating in this panel on the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.72 | UGGT1 | Achchuthan Shanmugasundram Tag Q3_25_NHS_review was removed from gene: UGGT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.72 | UGGT1 | Achchuthan Shanmugasundram Entity copied from Congenital disorders of glycosylation v7.11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.72 | UGGT1 |
Achchuthan Shanmugasundram gene: UGGT1 was added gene: UGGT1 was added to Likely inborn error of metabolism. Sources: Literature,Expert Review Amber Q3_25_promote_green, Q3_25_NHS_review tags were added to gene: UGGT1. Mode of inheritance for gene: UGGT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UGGT1 were set to 40267907 Phenotypes for gene: UGGT1 were set to congenital disorder of glycosylation, MONDO:0015286 |
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