Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.43 | MT-TW |
Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: MT-TW. Tag Q2_25_expert_review was removed from gene: MT-TW. Tag Q2_25_ NHS_review was removed from gene: MT-TW. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.43 | MT-TW | Achchuthan Shanmugasundram edited their review of gene: MT-TW: 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-TW |
Achchuthan Shanmugasundram Source Expert Review Red was added to MT-TW. Source NHS GMS was added to MT-TW. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.34 | MT-TW | Achchuthan Shanmugasundram Tag locus-type-rna-transfer tag was added to gene: MT-TW. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.19 | MT-TW | Achchuthan Shanmugasundram Classified gene: MT-TW as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.19 | MT-TW | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Katherine Schon, myopathy has been reported in patients with m.5521G>A variant in MT-TW. However, there is no clear evidence for the onset of myopathy in infancy or early childhood. Hence, expert review is being sought on whether to promote this gene to green rating on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.19 | MT-TW | Achchuthan Shanmugasundram Gene: mt-tw has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.18 | MT-TW | Achchuthan Shanmugasundram Phenotypes for gene: MT-TW were changed from to inborn mitochondrial myopathy, MONDO:0009637 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.17 | MT-TW | Achchuthan Shanmugasundram Publications for gene: MT-TW were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.16 | MT-TW |
Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: MT-TW. Tag Q2_25_expert_review tag was added to gene: MT-TW. Tag Q2_25_ NHS_review tag was added to gene: MT-TW. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.16 | MT-TW | Achchuthan Shanmugasundram edited their review of gene: MT-TW: Changed publications to: 9673981, 20360171, 23841600; Changed phenotypes to: inborn mitochondrial myopathy, MONDO:0009637 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.16 | MT-TW |
Achchuthan Shanmugasundram changed review comment from: PMID:9673981 - The m.5521G>A variant in MT-TW gene was identified in a patient with late-onset mitochondrial myopathy. PMID:23841600 - Three Tunisian patients were reported with mitochondrial myopathy. One of these patients was detected with m.5521G>A variant in MT-TW and with m.8682A>G variant in MT-ATP6 gene.; to: PMID:9673981 - The m.5521G>A variant in MT-TW gene was identified in a patient with late-onset mitochondrial myopathy. PMID:20360171 - A female patient was reported with m.5521G>A variant, who initially developed sensorineural hearing loss at 24 years of age. She was diagnosed with overlapped MERRF/ MELAS phenotype. PMID:23841600 - Three Tunisian patients were reported with mitochondrial myopathy. One of these patients was detected with m.5521G>A variant in MT-TW and with m.8682A>G variant in MT-ATP6 gene. This patient had the onset of the disorder at 11 months of age with neurodevelopmental and psychomotor delay, mental retardation, axial hypotonia, paraplegia, seizures and lactic acidosis. It is not clear when this patient started showing myopathic features. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.16 | MT-TW | Achchuthan Shanmugasundram reviewed gene: MT-TW: Rating: AMBER; Mode of pathogenicity: None; Publications: 9673981, 23841600; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.10 | MT-TW | Katherine Schon reviewed gene: MT-TW: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9673981, 23841600; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.9 | MT-TW |
Achchuthan Shanmugasundram gene: MT-TW was added gene: MT-TW was added to Congenital myopathy. Sources: Literature Mode of inheritance for gene gene: MT-TW was set to MITOCHONDRIAL Mode of pathogenicity for gene: MT-TW was set to Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||