Activity
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| Congenital myopathy v6.43 | MT-TN |
Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: MT-TN. Tag Q2_25_expert_review was removed from gene: MT-TN. Tag Q2_25_ NHS_review was removed from gene: MT-TN. |
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| Congenital myopathy v6.43 | MT-TN | Achchuthan Shanmugasundram edited their review of gene: MT-TN: 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-TN |
Achchuthan Shanmugasundram Source Expert Review Red was added to MT-TN. Source NHS GMS was added to MT-TN. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Congenital myopathy v6.34 | MT-TN | Achchuthan Shanmugasundram Tag locus-type-rna-transfer tag was added to gene: MT-TN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.22 | MT-TN | Achchuthan Shanmugasundram Classified gene: MT-TN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.22 | MT-TN | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Katherine Schon, pathogenic variants in MT-TN have been reported to cause mitochondrial myopathy. However, there is no clear evidence to suggest that the reported patients had onset of myopathy during infancy/ early childhood. Hence, expert review is sought on whether this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.22 | MT-TN | Achchuthan Shanmugasundram Gene: mt-tn has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.21 | MT-TN | Achchuthan Shanmugasundram Phenotypes for gene: MT-TN were changed from to inborn mitochondrial myopathy, MONDO:0009637 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.20 | MT-TN | Achchuthan Shanmugasundram Publications for gene: MT-TN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.19 | MT-TN |
Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: MT-TN. Tag Q2_25_expert_review tag was added to gene: MT-TN. Tag Q2_25_ NHS_review tag was added to gene: MT-TN. |
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| Congenital myopathy v6.19 | MT-TN | Achchuthan Shanmugasundram edited their review of gene: MT-TN: Changed publications to: 8254046, 16908752, 23696415, 31026515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.19 | MT-TN |
Achchuthan Shanmugasundram changed review comment from: PMID:8254046 - Two patients were reported with identification of pathogenic variants in two different mitochondrial tRNA genes. One of them had m.5703G>A variant in MT-TN gene and it was associated with isolated ophthalmoplegia. Electromyography tests taken at 27 years of age were compatible with myopathy. However, the actual age of onset of myopathy was not reported. PMID:16908752 - A 13-year-old male patient with multi organ failure was identified with m.5728C>T variant in MT-TN gene. The patient had initial symptoms since 2 years of age and muscle weakness was first reported at 10 years. PMID:23696415 - This study identified nine different mt-tRNA variants in nine families, of which one was m.5690A>G variant from MT-TN gene. The patient had the onset of disease at 13 years and presented with chronic progressive external ophthalmoplegia (CPEO), ptosis and proximal myopathy. PMID:31026515 - A nine-year old female was identified with m.5728C>T variant and has a milder clinical phenotype with isolated ptosis and ophthalmoplegia. She She was reported to have the onset of ptosis at around 8 years of age.; to: PMID:8254046 - Two patients were reported with identification of pathogenic variants in two different mitochondrial tRNA genes. One of them had m.5703G>A variant in MT-TN gene and it was associated with isolated ophthalmoplegia. Electromyography tests taken at 27 years of age were compatible with myopathy. However, the actual age of onset of myopathy was not reported. PMID:16908752 - A 13-year-old male patient with multi organ failure was identified with m.5728C>T variant in MT-TN gene. The patient had initial symptoms since 2 years of age and muscle weakness was first reported at 10 years. PMID:23696415 - This study identified nine different mt-tRNA variants in nine families, of which one was m.5690A>G variant from MT-TN gene. The patient had the onset of disease at 13 years and presented with chronic progressive external ophthalmoplegia (CPEO), ptosis and proximal myopathy. PMID:31026515 - A nine-year old female was identified with m.5728C>T variant and has a milder clinical phenotype with isolated ptosis and ophthalmoplegia. She was reported to have the onset of ptosis at around 8 years of age. |
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| Congenital myopathy v6.19 | MT-TN | Achchuthan Shanmugasundram reviewed gene: MT-TN: Rating: GREEN; Mode of pathogenicity: None; Publications: 8254046, 16908752, 23696415; Phenotypes: inborn mitochondrial myopathy, MONDO:0009637; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.10 | MT-TN | Katherine Schon reviewed gene: MT-TN: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23696415, 31026515, 8254046; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.9 | MT-TN |
Achchuthan Shanmugasundram gene: MT-TN was added gene: MT-TN was added to Congenital myopathy. Sources: Literature Mode of inheritance for gene gene: MT-TN was set to MITOCHONDRIAL Mode of pathogenicity for gene: MT-TN was set to Other |
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