Activity
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11 actions
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| Likely inborn error of metabolism v8.100 | PDE12 | Ida Ertmanska Tag gene-checked tag was added to gene: PDE12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.94 | PDE12 | Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PDE12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.94 | PDE12 | Achchuthan Shanmugasundram commented on gene: PDE12: 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 | PDE12 |
Achchuthan Shanmugasundram Source NHS GMS was added to PDE12. Source Expert Review Green was added to PDE12. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v8.80 | PDE12 | Achchuthan Shanmugasundram Classified gene: PDE12 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.80 | PDE12 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: PDE12 has already been recommended for promotion to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/PDE12/), as detailed in the below reviews copied from that panel. As there is sufficient evidence available for the association of PDE12 with mitochondrial disease, 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 v8.80 | PDE12 | Achchuthan Shanmugasundram Gene: pde12 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.79 | PDE12 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.79 | PDE12 | Achchuthan Shanmugasundram Tag Q3_25_NHS_review was removed from gene: PDE12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.79 | PDE12 | Achchuthan Shanmugasundram Entity copied from Mitochondrial disorders v9.36 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.79 | PDE12 |
Achchuthan Shanmugasundram gene: PDE12 was added gene: PDE12 was added to Likely inborn error of metabolism. Sources: Expert Review Amber,Expert list Q3_25_promote_green, Q3_25_NHS_review tags were added to gene: PDE12. Mode of inheritance for gene: PDE12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDE12 were set to 28745585; 29903433; 39567835 Phenotypes for gene: PDE12 were set to mitochondrial disease, MONDO:0044970 |
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