Activity
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15 actions
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| Congenital myopathy v6.43 | MT-TE |
Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: MT-TE. Tag Q2_25_expert_review was removed from gene: MT-TE. Tag Q2_25_ NHS_review was removed from gene: MT-TE. |
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| Congenital myopathy v6.43 | MT-TE | Achchuthan Shanmugasundram edited their review of gene: MT-TE: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has been updated to red. GLH review concluded that mitochondrial myopathies are not good fit for this panel. R300 Possible mitochondrial disorder - whole mitochondrial genome sequencing would be the more appropriate test.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.42 | MT-TE |
Achchuthan Shanmugasundram Source Expert Review Red was added to MT-TE. Source NHS GMS was added to MT-TE. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Congenital myopathy v6.34 | MT-TE | Achchuthan Shanmugasundram Tag locus-type-rna-transfer tag was added to gene: MT-TE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.28 | MT-TE | Achchuthan Shanmugasundram edited their review of gene: MT-TE: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.28 | MT-TE | Achchuthan Shanmugasundram Classified gene: MT-TE as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.28 | MT-TE | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed below, patients with MT-TE variants are reported with either congenital myopathy or adult-onset myopathy. As there are >3 unrelated cases with congenital myopathy, this gene can be considered for promotion to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.28 | MT-TE | Achchuthan Shanmugasundram Gene: mt-te has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.27 | MT-TE | Achchuthan Shanmugasundram Phenotypes for gene: MT-TE were changed from to inborn mitochondrial myopathy, MONDO:0009637; congenital myopathy, MONDO:0019952 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.26 | MT-TE | Achchuthan Shanmugasundram Publications for gene: MT-TE were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.25 | MT-TE |
Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: MT-TE. Tag Q2_25_expert_review tag was added to gene: MT-TE. Tag Q2_25_ NHS_review tag was added to gene: MT-TE. |
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| Congenital myopathy v6.25 | MT-TE | Achchuthan Shanmugasundram edited their review of gene: MT-TE: Changed phenotypes to: inborn mitochondrial myopathy, MONDO:0009637, congenital myopathy, MONDO:0019952 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.25 | MT-TE | Achchuthan Shanmugasundram reviewed gene: MT-TE: Rating: AMBER; Mode of pathogenicity: None; Publications: 7726155, 10392369, 15607216, 21194154; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.10 | MT-TE | Katherine Schon reviewed gene: MT-TE: Rating: GREEN; Mode of pathogenicity: Other; Publications: 7726155, 21931168, 33128823, 15607216; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.9 | MT-TE |
Achchuthan Shanmugasundram gene: MT-TE was added gene: MT-TE was added to Congenital myopathy. Sources: Literature Mode of inheritance for gene gene: MT-TE was set to MITOCHONDRIAL Mode of pathogenicity for gene: MT-TE was set to Other |
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