Activity
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8 actions
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| Paediatric or syndromic cardiomyopathy v7.92 | MT-TL1 |
Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Katherine Schon on R131 Hypertrophic cardiomyopathy panel, HCM is reported as one of the presenting phenotypes in several unrelated patients with m.3243A>G variant. Expert review is being sought from the Genomic Medicine Service on whether this gene can be promoted to the next major version.; to: Comment on list classification: As reviewed by Katherine Schon on R131 Hypertrophic cardiomyopathy panel, HCM is reported as one of the presenting phenotypes in several unrelated patients with m.3243A>G variant. Expert opinion is sought from the Genomic Medicine Service on the inclusion of this gene on this panel with green raring in the next GMS update. |
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| Paediatric or syndromic cardiomyopathy v7.92 | MT-TL1 | Achchuthan Shanmugasundram Tag Q2_25_expert_review tag was added to gene: MT-TL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.92 | MT-TL1 |
Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Katherine Schon on R131 Hypertrophic cardiomyopathy panel, HCM is reported as one of the presenting phenotypes in several unrelated patients with m.3243A>G variant. This gene can therefore be promoted to green rating on the next GMS update.; to: Comment on list classification: As reviewed by Katherine Schon on R131 Hypertrophic cardiomyopathy panel, HCM is reported as one of the presenting phenotypes in several unrelated patients with m.3243A>G variant. Expert review is being sought from the Genomic Medicine Service on whether this gene can be promoted to the next major version. |
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| Paediatric or syndromic cardiomyopathy v7.2 | MT-TL1 | Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: MT-TL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.2 | MT-TL1 |
Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Katherine Schon, Hypertrophic cardiomyopathy is reported as one of the presenting phenotypes in several unrelated patients with m.3243A>G variant. However, it should be noted that R131 is only intended for genes associated with isolated HCM and not for syndromic genes. So, the rating should remain amber on this panel. This gene is therefore better placed as a green rated gene on the WGS clinical indication R135 Paediatric or syndromic cardiomyopathy.; to: Comment on list classification: As reviewed by Katherine Schon on R131 Hypertrophic cardiomyopathy panel, HCM is reported as one of the presenting phenotypes in several unrelated patients with m.3243A>G variant. This gene can therefore be promoted to green rating on the next GMS update. |
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| Paediatric or syndromic cardiomyopathy v7.2 | MT-TL1 | Achchuthan Shanmugasundram edited their review of gene: MT-TL1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.2 | MT-TL1 | Achchuthan Shanmugasundram Entity copied from Hypertrophic cardiomyopathy v5.6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.2 | MT-TL1 |
Achchuthan Shanmugasundram gene: MT-TL1 was added gene: MT-TL1 was added to Paediatric or syndromic cardiomyopathy. Sources: South West GLH,Expert Review,Expert Review Amber locus-type-rna-transfer tags were added to gene: MT-TL1. Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL Publications for gene: MT-TL1 were set to 7473662; 8477849; 12874464; 14673589; 25639022; 30888501; 30133155 Phenotypes for gene: MT-TL1 were set to MELAS syndrome caused by mutation in MTTL1, MONDO:0800032; hypertrophic cardiomyopathy, MONDO:0005045 |
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