Activity
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12 actions
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| Likely inborn error of metabolism v8.2 | ARSG | Sadaf Naz reviewed gene: ARSG: Rating: GREEN; Mode of pathogenicity: None; Publications: 29300381, 32455177, 33300174, 33629623, 34223797, 35226187; Phenotypes: Usher syndrome, type IV; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v6.10 | ARSG | Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: ARSG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v6.10 | ARSG | Achchuthan Shanmugasundram commented on gene: ARSG: The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v6.9 | ARSG |
Achchuthan Shanmugasundram Source NHS GMS was added to ARSG. Source Expert Review Green was added to ARSG. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v5.17 | ARSG | Achchuthan Shanmugasundram Classified gene: ARSG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.17 | ARSG | Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated green as it is green on 'Lysosomal storage disorder' panel (https://panelapp.genomicsengland.co.uk/panels/529/gene/ARSG/). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.15 | ARSG | Achchuthan Shanmugasundram Phenotypes for gene: ARSG were changed from Usher syndrome, type IV OMIM:618144; usher syndrome, type 4 MONDO:0029141 to Usher syndrome, type IV, OMIM:618144; usher syndrome, type 4, MONDO:0029141 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.14 | ARSG | Achchuthan Shanmugasundram Publications for gene: ARSG were set to 26975023; 20679209; 25452429; 33300174 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.13 | ARSG | Achchuthan Shanmugasundram Mode of inheritance for gene: ARSG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.12 | ARSG | Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: ARSG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.12 | ARSG | Achchuthan Shanmugasundram reviewed gene: ARSG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type IV, OMIM:618144; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.4 | ARSG |
Ellen McDonagh gene: ARSG was added gene: ARSG was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ARSG was set to Unknown Publications for gene: ARSG were set to 26975023; 20679209; 25452429 Phenotypes for gene: ARSG were set to neuronal ceroid lipofuscinosis |
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