Hypertrophic cardiomyopathy_HCM
Gene: MT-TIComment when marking as ready: NOTE: Mitochondrial DNA gene not tractable by many commonly used genomics methods.Created: 29 Jul 2020, 6:46 a.m. | Last Modified: 29 Jul 2020, 6:46 a.m.
Panel Version: 0.121
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: LiteratureCreated: 29 Jul 2020, 2:45 a.m. | Last Modified: 29 Jul 2020, 3 a.m.
Panel Version: 0.89
Mode of inheritance
MITOCHONDRIAL
Phenotypes
Hypertrophic cardiomyopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: mt-ti has been classified as Green List (High Evidence).
Gene: mt-ti has been classified as Green List (High Evidence).
Tag mtDNA tag was added to gene: MT-TI.
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