Activity

Filter

Cancel
Date Panel Item Activity
13 actions
Congenital myopathy v6.43 MT-TK Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: MT-TK.
Tag Q2_25_expert_review was removed from gene: MT-TK.
Tag Q2_25_ NHS_review was removed from gene: MT-TK.
Congenital myopathy v6.43 MT-TK Achchuthan Shanmugasundram edited their review of gene: MT-TK: 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-TK Achchuthan Shanmugasundram Source Expert Review Red was added to MT-TK.
Source NHS GMS was added to MT-TK.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Congenital myopathy v6.34 MT-TK Achchuthan Shanmugasundram Tag locus-type-rna-transfer tag was added to gene: MT-TK.
Congenital myopathy v6.16 MT-TK Achchuthan Shanmugasundram Classified gene: MT-TK as Amber List (moderate evidence)
Congenital myopathy v6.16 MT-TK Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Katherine Schon, myopathy is one of the clinical presentations of MERFF syndrome caused by m.8344A>G variant in MT-TK gene. However, it should be noted that the onset of myopathic features is not during infancy or first few years of life in the reported patients. Hence, expert review is sought from the Genomic Medicine Service on upgrading this gene to green rating on this panel.
Congenital myopathy v6.16 MT-TK Achchuthan Shanmugasundram Gene: mt-tk has been classified as Amber List (Moderate Evidence).
Congenital myopathy v6.15 MT-TK Achchuthan Shanmugasundram Publications for gene: MT-TK were set to
Congenital myopathy v6.14 MT-TK Achchuthan Shanmugasundram Phenotypes for gene: MT-TK were changed from to MERRF syndrome, MONDO:0010790; inborn mitochondrial myopathy, MONDO:0009637
Congenital myopathy v6.13 MT-TK Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: MT-TK.
Tag Q2_25_expert_review tag was added to gene: MT-TK.
Tag Q2_25_ NHS_review tag was added to gene: MT-TK.
Congenital myopathy v6.13 MT-TK Achchuthan Shanmugasundram reviewed gene: MT-TK: Rating: AMBER; Mode of pathogenicity: None; Publications: 1463006, 8228033; Phenotypes: MERRF syndrome, MONDO:0010790, inborn mitochondrial myopathy, MONDO:0009637; Mode of inheritance: MITOCHONDRIAL
Congenital myopathy v6.10 MT-TK Katherine Schon reviewed gene: MT-TK: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Congenital myopathy v6.9 MT-TK Achchuthan Shanmugasundram gene: MT-TK was added
gene: MT-TK was added to Congenital myopathy. Sources: Literature
Mode of inheritance for gene gene: MT-TK was set to MITOCHONDRIAL
Mode of pathogenicity for gene: MT-TK was set to Other