Activity
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6 actions
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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 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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| Likely inborn error of metabolism v1.47 | GGT1 |
Ivone Leong Source NHS GMS was added to GGT1. Source London North GLH was added to GGT1. |
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| Likely inborn error of metabolism v0.4 | GGT1 |
Ellen McDonagh gene: GGT1 was added gene: GGT1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: GGT1 was set to Unknown Publications for gene: GGT1 were set to 27604308; 24816252 Phenotypes for gene: GGT1 were set to Gamma-glutamyl transpeptidase deficiency; Glutathionuria (Disorders of the gamma-glutamyl cycle) |
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