Activity
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10 actions
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| Likely inborn error of metabolism v8.94 | TOMM7 | Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: TOMM7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.94 | TOMM7 | Achchuthan Shanmugasundram commented on gene: TOMM7: 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 | TOMM7 |
Achchuthan Shanmugasundram Source NHS GMS was added to TOMM7. Source Expert Review Green was added to TOMM7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v8.13 | TOMM7 | Achchuthan Shanmugasundram Classified gene: TOMM7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.13 | TOMM7 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated cases reported with biallelic variants in TOMM7 gene and with Garg-Mishra progeroid syndrome (MIM #620601). This gene has already been recommended for promotion to green rating on R63 Possible mitochondrial disorder - nuclear genes (https://panelapp.genomicsengland.co.uk/panels/539/gene/TOMM7/) and Mitochondrial disorders (https://panelapp.genomicsengland.co.uk/panels/112/gene/TOMM7/) panels. Hence, this gene should also be recommended for promotion to green rating on this panel. |
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| Likely inborn error of metabolism v8.13 | TOMM7 | Achchuthan Shanmugasundram Gene: tomm7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.12 | TOMM7 | Achchuthan Shanmugasundram reviewed gene: TOMM7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.12 | TOMM7 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: TOMM7. Tag Q3_24_NHS_review was removed from gene: TOMM7. Tag Q2_25_ promote_green tag was added to gene: TOMM7. |
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| Likely inborn error of metabolism v8.12 | TOMM7 | Achchuthan Shanmugasundram Entity copied from Possible mitochondrial disorder - nuclear genes v4.6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.12 | TOMM7 |
Achchuthan Shanmugasundram gene: TOMM7 was added gene: TOMM7 was added to Likely inborn error of metabolism. Sources: Literature,Expert Review Amber Q3_24_promote_green, Q3_24_NHS_review tags were added to gene: TOMM7. Mode of inheritance for gene: TOMM7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOMM7 were set to 36282599; 36299998; 39333057 Phenotypes for gene: TOMM7 were set to Garg-Mishra progeroid syndrome, OMIM:620601; Garg-Mishra progeroid syndrome, MONDO:0957953 |
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