Activity
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6 actions
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| Likely inborn error of metabolism v8.25 | IDH3A | Achchuthan Shanmugasundram Classified gene: IDH3A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.25 | IDH3A |
Achchuthan Shanmugasundram Added comment: Comment on list classification: IDH3A has already been promoted to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/IDH3A/) 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 v8.25 | IDH3A | Achchuthan Shanmugasundram Gene: idh3a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.24 | IDH3A | Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: IDH3A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.24 | IDH3A | Achchuthan Shanmugasundram Entity copied from Mitochondrial disorders v9.15 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.24 | IDH3A |
Achchuthan Shanmugasundram gene: IDH3A was added gene: IDH3A was added to Likely inborn error of metabolism. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: IDH3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IDH3A were set to 31012789; 30478029; 30058936; 28412069; 28058510 Phenotypes for gene: IDH3A were set to Retinitis pigmentosa 90, OMIM:619007; retinitis pigmentosa 90, MONDO:0033563 |
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