Activity
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15 actions
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| Hypertrophic cardiomyopathy v5.22 | MT-TV | Arina Puzriakova commented on gene: MT-TV | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v5.21 | MT-TV | Arina Puzriakova Classified gene: MT-TV as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v5.21 | MT-TV | Arina Puzriakova Gene: mt-tv has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v5.20 | MT-TV | Arina Puzriakova Tag curated_removed tag was added to gene: MT-TV. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v5.20 | MT-TV |
Arina Puzriakova Tag Q2_25_ promote_green was removed from gene: MT-TV. Tag Q2_25_expert_review was removed from gene: MT-TV. Tag Q2_25_ NHS_review was removed from gene: MT-TV. |
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| Hypertrophic cardiomyopathy v5.12 | MT-TV | Achchuthan Shanmugasundram Tag locus-type-rna-transfer tag was added to gene: MT-TV. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v5.12 | MT-TV | Achchuthan Shanmugasundram Classified gene: MT-TV as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v5.12 | MT-TV |
Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least three unrelated cases reported with MT-TV variants and with hypertrophic cardiomyopathy. However, HCM is part of a syndromic phenotype. R131 is only intended for genes associated with isolated HCM and not for syndromic genes. Hence, expert review is sought on whether this gene can be promoted to green rating on this panel. This gene is therefore better placed as a green rated gene on the WGS clinical indication R135 Paediatric or syndromic cardiomyopathy. |
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| Hypertrophic cardiomyopathy v5.12 | MT-TV | Achchuthan Shanmugasundram Gene: mt-tv has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v5.11 | MT-TV | Achchuthan Shanmugasundram Phenotypes for gene: MT-TV were changed from to MELAS syndrome, MONDO:0010789; hypertrophic cardiomyopathy, MONDO:000504 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v5.10 | MT-TV | Achchuthan Shanmugasundram Publications for gene: MT-TV were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v5.9 | MT-TV |
Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: MT-TV. Tag Q2_25_expert_review tag was added to gene: MT-TV. Tag Q2_25_ NHS_review tag was added to gene: MT-TV. |
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| Hypertrophic cardiomyopathy v5.9 | MT-TV | Achchuthan Shanmugasundram reviewed gene: MT-TV: Rating: AMBER; Mode of pathogenicity: None; Publications: 15320572, 21986556, 34298071; Phenotypes: MELAS syndrome, MONDO:0010789, hypertrophic cardiomyopathy, MONDO:0005045; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v5.3 | MT-TV | Katherine Schon reviewed gene: MT-TV: Rating: GREEN; Mode of pathogenicity: Other; Publications: 34298071, 15320572; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v5.2 | MT-TV |
Achchuthan Shanmugasundram gene: MT-TV was added gene: MT-TV was added to Hypertrophic cardiomyopathy. Sources: Literature Mode of inheritance for gene gene: MT-TV was set to MITOCHONDRIAL Mode of pathogenicity for gene: MT-TV was set to Other |
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