Activity
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11 actions
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| Likely inborn error of metabolism v7.12 | DDOST | Sarah Leigh Tag Q3_24_promote_green was removed from gene: DDOST. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v7.12 | DDOST | Sarah Leigh reviewed gene: DDOST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v7.12 | DDOST |
Sarah Leigh Source NHS GMS was added to DDOST. Source Expert Review Green was added to DDOST. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v7.8 | DDOST | Achchuthan Shanmugasundram Classified gene: DDOST as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v7.8 | DDOST | Achchuthan Shanmugasundram Added comment: Comment on list classification: Two unrelated cases and functional evidence are available in support of the association of this gene with congenital disorder glycosylation and hence recommended for green rating on the Congenital disorders of glycosylation panel (https://panelapp.genomicsengland.co.uk/panels/25/gene/DDOST/). This gene should therefore promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v7.8 | DDOST | Achchuthan Shanmugasundram Gene: ddost has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v7.7 | DDOST | Achchuthan Shanmugasundram Phenotypes for gene: DDOST were changed from ?Congenital disorder of glycosylation, type Ir 614507 to Congenital disorder of glycosylation, type Ir, OMIM:614507 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v7.7 | DDOST | Achchuthan Shanmugasundram Publications for gene: DDOST were set to 22305527 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v7.6 | DDOST | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DDOST. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v7.6 | DDOST | Achchuthan Shanmugasundram reviewed gene: DDOST: Rating: GREEN; Mode of pathogenicity: None; Publications: 22305527, 34462534; Phenotypes: Congenital disorder of glycosylation, type Ir, OMIM:614507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.4 | DDOST |
Ellen McDonagh gene: DDOST was added gene: DDOST was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: DDOST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDOST were set to 22305527 Phenotypes for gene: DDOST were set to ?Congenital disorder of glycosylation, type Ir 614507 |
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