Activity
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12 actions
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| Paediatric or syndromic cardiomyopathy v7.92 | MT-TV | Achchuthan Shanmugasundram Tag Q2_25_expert_review tag was added to gene: MT-TV. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.92 | MT-TV |
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 at least three unrelated patients with variants in MT-TV gene. 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 at least three unrelated patients with variants in MT-TV gene. 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 v7.6 | MT-TV | Achchuthan Shanmugasundram Tag locus-type-rna-transfer tag was added to gene: MT-TV. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.6 | MT-TV | Achchuthan Shanmugasundram Classified gene: MT-TV as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.6 | MT-TV | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Katherine Schon on R131 Hypertrophic cardiomyopathy panel, HCM is reported as one of the presenting phenotypes in at least three unrelated patients with variants in MT-TV gene. This gene can therefore be promoted to green rating on the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.6 | MT-TV | Achchuthan Shanmugasundram Gene: mt-tv has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.5 | MT-TV | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.5 | MT-TV | Achchuthan Shanmugasundram edited their review of gene: MT-TV: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.5 | MT-TV | Achchuthan Shanmugasundram Tag Q2_25_ NHS_review was removed from gene: MT-TV. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.5 | MT-TV | Achchuthan Shanmugasundram Tag Q2_25_expert_review was removed from gene: MT-TV. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.5 | MT-TV | Achchuthan Shanmugasundram Entity copied from Hypertrophic cardiomyopathy v5.12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.5 | MT-TV |
Achchuthan Shanmugasundram gene: MT-TV was added gene: MT-TV was added to Paediatric or syndromic cardiomyopathy. Sources: Literature,Expert Review Amber Q2_25_ promote_green, Q2_25_expert_review, Q2_25_ NHS_review tags were added to gene: MT-TV. Mode of inheritance for gene gene: MT-TV was set to MITOCHONDRIAL Publications for gene: MT-TV were set to 15320572; 21986556; 34298071 Phenotypes for gene: MT-TV were set to MELAS syndrome, MONDO:0010789; hypertrophic cardiomyopathy, MONDO:000504 Mode of pathogenicity for gene: MT-TV was set to Other |
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