Activity
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10 actions
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| Likely inborn error of metabolism v8.94 | SLC25A24 | Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: SLC25A24. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.94 | SLC25A24 | Achchuthan Shanmugasundram commented on gene: SLC25A24: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.93 | SLC25A24 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC25A24. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v8.44 | SLC25A24 | Achchuthan Shanmugasundram Classified gene: SLC25A24 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.44 | SLC25A24 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: SLC25A24 has already been promoted to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/SLC25A24/) 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 v8.44 | SLC25A24 | Achchuthan Shanmugasundram Gene: slc25a24 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.43 | SLC25A24 | Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: SLC25A24. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.43 | SLC25A24 | Achchuthan Shanmugasundram reviewed gene: SLC25A24: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.43 | SLC25A24 | Achchuthan Shanmugasundram Entity copied from Mitochondrial disorders v9.19 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.43 | SLC25A24 |
Achchuthan Shanmugasundram gene: SLC25A24 was added gene: SLC25A24 was added to Likely inborn error of metabolism. Sources: Expert list,NHS GMS,Expert Review Green Mode of inheritance for gene: SLC25A24 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC25A24 were set to 29903433; 29100093; 29100094 Phenotypes for gene: SLC25A24 were set to Fontaine progeroid syndrome, OMIM:612289; Fontaine progeroid syndrome, MONDO:0012853 |
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