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Congenital myopathy v6.43 MT-TL1 Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: MT-TL1.
Tag Q2_25_expert_review was removed from gene: MT-TL1.
Tag Q2_25_ NHS_review was removed from gene: MT-TL1.
Congenital myopathy v6.43 MT-TL1 Achchuthan Shanmugasundram edited their review of gene: MT-TL1: 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-TL1 Achchuthan Shanmugasundram Source Expert Review Red was added to MT-TL1.
Source NHS GMS was added to MT-TL1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Congenital myopathy v6.13 MT-TL1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As the myopathy phenotype has predominantly been reported to be relatively late-onset, expert review is sought from the Genomic Medicine Service on promotion of this gene to green rating.; to: Comment on list classification: As the myopathy phenotype has predominantly been reported to be relatively late-onset, expert review is sought from the Genomic Medicine Service on promotion of this gene to green rating on this panel.
Congenital myopathy v6.13 MT-TL1 Achchuthan Shanmugasundram Classified gene: MT-TL1 as Amber List (moderate evidence)
Congenital myopathy v6.13 MT-TL1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As the myopathy phenotype has predominantly been reported to be relatively late-onset, expert review is sought from the Genomic Medicine Service on promotion of this gene to green rating.
Congenital myopathy v6.13 MT-TL1 Achchuthan Shanmugasundram Gene: mt-tl1 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v6.12 MT-TL1 Achchuthan Shanmugasundram Phenotypes for gene: MT-TL1 were changed from MELAS syndrome, MONDO:0010789 to MELAS syndrome caused by mutation in MTTL1, MONDO:0800032; inborn mitochondrial myopathy, MONDO:0009637
Congenital myopathy v6.11 MT-TL1 Achchuthan Shanmugasundram Publications for gene: MT-TL1 were set to
Congenital myopathy v6.10 MT-TL1 Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: MT-TL1.
Tag Q2_25_expert_review tag was added to gene: MT-TL1.
Tag Q2_25_ NHS_review tag was added to gene: MT-TL1.
Congenital myopathy v6.10 MT-TL1 Achchuthan Shanmugasundram reviewed gene: MT-TL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 8122892, 8559168, 18391161; Phenotypes: MELAS syndrome caused by mutation in MTTL1, MONDO:0800032, inborn mitochondrial myopathy, MONDO:0009637; Mode of inheritance: MITOCHONDRIAL
Congenital myopathy v6.10 MT-TL1 Katherine Schon reviewed gene: MT-TL1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23355809, 20458543, 33484420; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Congenital myopathy v4.38 MT-TL1 Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1.
Congenital myopathy v3.64 MT-TL1 Arina Puzriakova Phenotypes for gene: MT-TL1 were changed from MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS 540000 to MELAS syndrome, MONDO:0010789
Congenital myopathy MT-TL1 Anna Sarkozy reviewed MT-TL1
Congenital myopathy MT-TL1 Helen Brittain marked MT-TL1 as ready
Congenital myopathy MT-TL1 Helen Brittain reviewed MT-TL1