Activity
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9 actions
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| Likely inborn error of metabolism v8.94 | SQOR | Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: SQOR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.94 | SQOR | Achchuthan Shanmugasundram commented on gene: SQOR: 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 | SQOR |
Achchuthan Shanmugasundram Source NHS GMS was added to SQOR. Source Expert Review Green was added to SQOR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v8.11 | SQOR | Achchuthan Shanmugasundram Classified gene: SQOR as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.11 | SQOR | Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene is currently being recommended for green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/SQOR/), as there are two unrelated families and some functional evidence available in support of the association of SQOR gene with Sulfide:quinone oxidoreductase deficiency. Hence, this gene should also be promoted to green rating on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.11 | SQOR | Achchuthan Shanmugasundram Gene: sqor has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.10 | SQOR | Achchuthan Shanmugasundram Phenotypes for gene: SQOR were changed from Leigh syndrome to Sulfide:quinone oxidoreductase deficiency, OMIM:619221 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.9 | SQOR | Achchuthan Shanmugasundram Entity copied from Mitochondrial disorders v9.14 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.9 | SQOR |
Achchuthan Shanmugasundram gene: SQOR was added gene: SQOR was added to Likely inborn error of metabolism. Sources: Literature,Expert Review Amber Q2_25_ promote_green tags were added to gene: SQOR. Mode of inheritance for gene: SQOR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SQOR were set to 32160317 Phenotypes for gene: SQOR were set to Leigh syndrome |
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