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Hypertrophic cardiomyopathy v4.21 MT-TI Eleanor Williams changed review comment from: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. However, reviewers note that only the m.4300A>G variant should be looked at.; to: The rating of this gene was initially updated to green following NHS Genomic Medicine Service approval, but after later review it was demoted to amber again before the panel was signed off for GMS use, with the comment that it would be better to be analysed through the WGS panel R135 Paediatric or syndromic cardiomyopathy. Reviewers also noted that only the m.4300A>G variant should be looked at.
Hypertrophic cardiomyopathy v4.21 MT-TI Achchuthan Shanmugasundram Classified gene: MT-TI as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v4.21 MT-TI Achchuthan Shanmugasundram Added comment: Comment on list classification: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber.

Below is the summary of recommendation from the NHS Genomic Medicine Service:
MT-TI appears to cause a pretty severe early-onset cardiomyopathy often with other mitochondrial features where reported and therefore suggest that it remains as amber on this panel and is better placed as a green rated gene on R135 where it is already green rated.
Hypertrophic cardiomyopathy v4.21 MT-TI Achchuthan Shanmugasundram Gene: mt-ti has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v4.20 MT-TI Achchuthan Shanmugasundram edited their review of gene: MT-TI: Changed rating: AMBER
Hypertrophic cardiomyopathy v4.20 MT-TI Eleanor Williams Publications for gene: MT-TI were set to 12767666; 21945886; 23332932; 29481798; 30025578
Hypertrophic cardiomyopathy v4.19 MT-TI Eleanor Williams edited their review of gene: MT-TI: Added comment: PMID: 39639347 Lopes et al 2024 - Used the bioinformatics pipeline, MitoHPC, to call mtDNA variants in 1363 genomes of cardiomyopathy patients from the 100,000 genomes project. 4 patients, all with a diagnosis of hypertrophic cardiomyopathy (HCM), with no previously identified genetic cause, had the m.4300A>G variant identified (0.6% of HCM cases without a diagnosis). No individuals from the control group were found to have this variant.; Changed publications to: 39639347
Hypertrophic cardiomyopathy v4.19 MT-TI Eleanor Williams Tag Q2_24_promote_green was removed from gene: MT-TI.
Hypertrophic cardiomyopathy v4.19 MT-TI Eleanor Williams reviewed gene: MT-TI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Hypertrophic cardiomyopathy v4.18 MT-TI Eleanor Williams Source NHS GMS was added to MT-TI.
Source Expert Review Green was added to MT-TI.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v4.16 MT-TI Arina Puzriakova Tag gene-checked tag was added to gene: MT-TI.
Hypertrophic cardiomyopathy v4.13 MT-TI Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TI.
Hypertrophic cardiomyopathy v4.12 MT-TI Achchuthan Shanmugasundram Classified gene: MT-TI as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v4.12 MT-TI Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least four unrelated cases with hypertrophic cardiomyopathy and hence this gene can be promoted to green rating in the next GMS review.
Hypertrophic cardiomyopathy v4.12 MT-TI Achchuthan Shanmugasundram Gene: mt-ti has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v4.11 MT-TI Achchuthan Shanmugasundram Phenotypes for gene: MT-TI were changed from to familial hypertrophic cardiomyopathy, MONDO:0024573; familial dilated cardiomyopathy, MONDO:0016333
Hypertrophic cardiomyopathy v4.10 MT-TI Achchuthan Shanmugasundram Publications for gene: MT-TI were set to 12767666; 30025578
Hypertrophic cardiomyopathy v4.9 MT-TI Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: MT-TI.
Hypertrophic cardiomyopathy v4.9 MT-TI Achchuthan Shanmugasundram reviewed gene: MT-TI: Rating: GREEN; Mode of pathogenicity: None; Publications: 12767666, 21945886, 23332932, 29481798, 30025578; Phenotypes: familial hypertrophic cardiomyopathy, MONDO:0024573, familial dilated cardiomyopathy, MONDO:0016333; Mode of inheritance: MITOCHONDRIAL
Hypertrophic cardiomyopathy v1.81 MT-TI Ivone Leong reviewed gene: MT-TI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.77 MT-TI James Eden reviewed gene: MT-TI: Rating: AMBER; Mode of pathogenicity: None; Publications: 12767666; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Hypertrophic cardiomyopathy v1.50 MT-TI Ellen McDonagh Marked gene: MT-TI as ready
Hypertrophic cardiomyopathy v1.50 MT-TI Ellen McDonagh Gene: mt-ti has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v1.50 MT-TI Ellen McDonagh Classified gene: MT-TI as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v1.50 MT-TI Ellen McDonagh Added comment: Comment on list classification: After discussion at the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019, this gene should remain Amber to await more evidence.
Hypertrophic cardiomyopathy v1.50 MT-TI Ellen McDonagh Gene: mt-ti has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v1.36 MT-TI Ellen McDonagh Publications for gene: MT-TI were set to
Hypertrophic cardiomyopathy v1.35 MT-TI Ellen McDonagh Classified gene: MT-TI as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v1.35 MT-TI Ellen McDonagh Added comment: Comment on list classification: New gene added to this panel after submission from the Oxford Medical Genetics Laboratory. Promoted from Red to Amber due to this new review and to raise in discussion with the NHSE GMS Cardiology specialist group.
Hypertrophic cardiomyopathy v1.35 MT-TI Ellen McDonagh Gene: mt-ti has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v1.28 MT-TI Oxford Medical Genetics Laboratory reviewed gene: MT-TI: Rating: GREEN; Mode of pathogenicity: ; Publications: Publications supporting role of this gene in HCM - PMID: 12767666, PMID: 30025578 ; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.27 MT-TI Ellen McDonagh gene: MT-TI was added
gene: MT-TI was added to Hypertrophic cardiomyopathy - teen and adult. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene gene: MT-TI was set to MITOCHONDRIAL