Activity
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8 actions
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| Likely inborn error of metabolism v8.100 | SUPV3L1 | Arina Puzriakova Tag gene-checked tag was added to gene: SUPV3L1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.94 | SUPV3L1 | Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: SUPV3L1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.94 | SUPV3L1 | Achchuthan Shanmugasundram commented on gene: SUPV3L1: 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 | SUPV3L1 |
Achchuthan Shanmugasundram Source NHS GMS was added to SUPV3L1. Source Expert Review Green was added to SUPV3L1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v8.49 | SUPV3L1 | Achchuthan Shanmugasundram reviewed gene: SUPV3L1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.49 | SUPV3L1 |
Achchuthan Shanmugasundram Tag Q1_25_ promote_green was removed from gene: SUPV3L1. Tag Q2_25_ promote_green tag was added to gene: SUPV3L1. |
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| Likely inborn error of metabolism v8.49 | SUPV3L1 | Achchuthan Shanmugasundram Entity copied from Mitochondrial disorders v9.19 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.49 | SUPV3L1 |
Achchuthan Shanmugasundram gene: SUPV3L1 was added gene: SUPV3L1 was added to Likely inborn error of metabolism. Sources: Literature,Expert Review Amber Q1_25_ promote_green tags were added to gene: SUPV3L1. Mode of inheritance for gene: SUPV3L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUPV3L1 were set to 35023579; 39596606 Phenotypes for gene: SUPV3L1 were set to Mitochondrial RNA Helicase SUPV3L1-Associated neurodegenerative syndrome |
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