Activity
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6 actions
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| Likely inborn error of metabolism v8.46 | SLC25A36 | Achchuthan Shanmugasundram Classified gene: SLC25A36 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.46 | SLC25A36 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: SLC25A36 has already been promoted to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/SLC25A36/) as detailed in the below reviews copied from that panel. As there is sufficient evidence available for the gene-disease association, this gene can be promoted to green rating on this panel in the next GMS update. |
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| Likely inborn error of metabolism v8.46 | SLC25A36 | Achchuthan Shanmugasundram Gene: slc25a36 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.45 | SLC25A36 | Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: SLC25A36. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.45 | SLC25A36 | Achchuthan Shanmugasundram Entity copied from Mitochondrial disorders v9.19 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.45 | SLC25A36 |
Achchuthan Shanmugasundram gene: SLC25A36 was added gene: SLC25A36 was added to Likely inborn error of metabolism. Sources: NHS GMS,Expert Review Green,Literature Mode of inheritance for gene: SLC25A36 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A36 were set to 34576089; 34971397; 36695547 Phenotypes for gene: SLC25A36 were set to Hyperinsulinemic hypoglycemia, familial, 8, OMIM:620211 |
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