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| Hypertrophic cardiomyopathy_HCM v0.121 | MT-TI | Seb Lunke Marked gene: MT-TI as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.121 | MT-TI | Seb Lunke Added comment: Comment when marking as ready: NOTE: Mitochondrial DNA gene not tractable by many commonly used genomics methods. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.121 | MT-TI | Seb Lunke Gene: mt-ti has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.120 | MT-TI | Seb Lunke Classified gene: MT-TI as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.120 | MT-TI | Seb Lunke Gene: mt-ti has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.119 | MT-TI | Seb Lunke Tag mtDNA tag was added to gene: MT-TI. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.89 | MT-TI |
Paul De Fazio changed review comment from: PMID: 12767666 2 families with maternally inherited HCM, variants were homoplasmic in tested affecteds (m.4300A>G) PMID: 30025578 1 family with HCM, variant was homoplasmic (m.4300A>G) PMID: 29481798 Homoplasmic m.4318-4322delC in one family with DCM and mitochondrial DNA depletion PMID: 23332932 Describe the morphologic, biochemical, and molecular features of hearts from 3 transplanted patients from 2 families (2x m.4300A>G, 1x m.4277C>T) with HCM. Seems to be an association with HCM but also possibly DCM? Not sure if this belongs on this panel. The HCM in the literature appears to be isolated. Sources: Literature; to: PMID: 12767666 2 families with maternally inherited HCM, variants were homoplasmic in tested affecteds (m.4300A>G) PMID: 30025578 1 family with HCM, variant was homoplasmic (m.4300A>G) PMID: 29481798 Homoplasmic m.4318-4322delC in one family with DCM and mitochondrial DNA depletion, other mtDNA abnormalities were also identified in this family. PMID: 23332932 Describe the morphologic, biochemical, and molecular features of hearts from 3 transplanted patients from 2 families (2x m.4300A>G, 1x m.4277C>T) with HCM. Seems to be an association with HCM but also possibly DCM? Not sure if this belongs on this panel. The HCM in the literature appears to be isolated. Sources: Literature |
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| Hypertrophic cardiomyopathy_HCM v0.89 | MT-TI | Paul De Fazio edited their review of gene: MT-TI: Changed publications: 12767666, 30025578, 29481798, 23332932 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.89 | MT-TI |
Paul De Fazio changed review comment from: PMID: 12767666 2 families with maternally inherited HCM, variants were homoplasmic in tested affecteds (m.4300A>G) PMID: 30025578 1 family with HCM, variant was homoplasmic (m.4300A>G) PMID: 29481798 Homoplasmic m.4318-4322delC in one family with DCM and mitochondrial DNA depletion Seems to be an association with HCM but also DCM and other mito-related phenotypes? Sources: Literature; to: PMID: 12767666 2 families with maternally inherited HCM, variants were homoplasmic in tested affecteds (m.4300A>G) PMID: 30025578 1 family with HCM, variant was homoplasmic (m.4300A>G) PMID: 29481798 Homoplasmic m.4318-4322delC in one family with DCM and mitochondrial DNA depletion PMID: 23332932 Describe the morphologic, biochemical, and molecular features of hearts from 3 transplanted patients from 2 families (2x m.4300A>G, 1x m.4277C>T) with HCM. Seems to be an association with HCM but also possibly DCM? Not sure if this belongs on this panel. The HCM in the literature appears to be isolated. Sources: Literature |
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| Hypertrophic cardiomyopathy_HCM v0.89 | MT-TI |
Paul De Fazio gene: MT-TI was added gene: MT-TI was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature Mode of inheritance for gene gene: MT-TI was set to MITOCHONDRIAL Publications for gene: MT-TI were set to 12767666; 30025578; 29481798 Phenotypes for gene: MT-TI were set to Hypertrophic cardiomyopathy Review for gene: MT-TI was set to AMBER gene: MT-TI was marked as current diagnostic Added comment: PMID: 12767666 2 families with maternally inherited HCM, variants were homoplasmic in tested affecteds (m.4300A>G) PMID: 30025578 1 family with HCM, variant was homoplasmic (m.4300A>G) PMID: 29481798 Homoplasmic m.4318-4322delC in one family with DCM and mitochondrial DNA depletion Seems to be an association with HCM but also DCM and other mito-related phenotypes? Sources: Literature |
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