Activity
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12 actions
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| Likely inborn error of metabolism v8.94 | C2orf69 | Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: C2orf69. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.94 | C2orf69 | Achchuthan Shanmugasundram commented on gene: C2orf69: 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 | C2orf69 |
Achchuthan Shanmugasundram Source Expert Review Green was added to C2orf69. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v8.17 | C2orf69 | Achchuthan Shanmugasundram edited their review of gene: C2orf69: Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.17 | COX11 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: This gene should be added with green rating to this panel as this gene has already been promoted to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/C2orf69/).; to: Comment on list classification: This gene should be added with green rating to this panel as this gene has already been promoted to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/COX11/). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.17 | COX11 | Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be added with green rating to this panel as this gene has already been promoted to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/C2orf69/). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.15 | C2orf69 | Achchuthan Shanmugasundram Classified gene: C2orf69 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.15 | C2orf69 | Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be added with green rating to this panel as this gene has already been promoted to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/C2orf69/). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.15 | C2orf69 | Achchuthan Shanmugasundram Gene: c2orf69 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.14 | C2orf69 | Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: C2orf69. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.14 | C2orf69 | Achchuthan Shanmugasundram Entity copied from Mitochondrial disorders v9.15 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.14 | C2orf69 |
Achchuthan Shanmugasundram gene: C2orf69 was added gene: C2orf69 was added to Likely inborn error of metabolism. Sources: Literature,NHS GMS,Expert Review Green gene-checked tags were added to gene: C2orf69. Mode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C2orf69 were set to 34038740; 33945503 Phenotypes for gene: C2orf69 were set to Combined oxidative phosphorylation deficiency 53, OMIM:619423 |
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