Activity
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9 actions
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| Likely inborn error of metabolism v8.94 | TAMM41 | Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: TAMM41. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.94 | TAMM41 | Achchuthan Shanmugasundram commented on gene: TAMM41: 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 | TAMM41 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TAMM41. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v8.51 | TAMM41 | Achchuthan Shanmugasundram Classified gene: TAMM41 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.51 | TAMM41 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: TAMM41 has already been promoted to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/TAMM41/) 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 v8.51 | TAMM41 | Achchuthan Shanmugasundram Gene: tamm41 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.50 | TAMM41 | Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: TAMM41. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.50 | TAMM41 | Achchuthan Shanmugasundram Entity copied from Mitochondrial disorders v9.19 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.50 | TAMM41 |
Achchuthan Shanmugasundram gene: TAMM41 was added gene: TAMM41 was added to Likely inborn error of metabolism. Sources: NHS GMS,Literature,Expert Review Green Mode of inheritance for gene: TAMM41 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAMM41 were set to 35321494 Phenotypes for gene: TAMM41 were set to Combined oxidative phosphorylation deficiency 56, OMIM:620139 |
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