Activity
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9 actions
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| Likely inborn error of metabolism v8.94 | MRPL39 | Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: MRPL39. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.94 | MRPL39 | Achchuthan Shanmugasundram commented on gene: MRPL39: 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 | MRPL39 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MRPL39. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v8.32 | MRPL39 | Achchuthan Shanmugasundram Classified gene: MRPL39 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.32 | MRPL39 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: MRPL39 has already been promoted to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/MRPL39/) 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 v8.32 | MRPL39 | Achchuthan Shanmugasundram Gene: mrpl39 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.31 | MRPL39 | Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: MRPL39. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.31 | MRPL39 | Achchuthan Shanmugasundram Entity copied from Mitochondrial disorders v9.17 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.31 | MRPL39 |
Achchuthan Shanmugasundram gene: MRPL39 was added gene: MRPL39 was added to Likely inborn error of metabolism. Sources: NHS GMS,Expert Review Green,Literature Mode of inheritance for gene: MRPL39 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPL39 were set to 37133451 Phenotypes for gene: MRPL39 were set to Combined oxidative phosphorylation deficiency 59, OMIM:620646 |
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