Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Hypertrophic cardiomyopathy v1.53 | MT-TL1 | Rebecca Whittington commented on gene: MT-TL1: No phenotype | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy v1.52 | MT-TL1 | Rebecca Whittington commented on gene: MT-TL1: No evidence | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy v1.51 | MT-TL1 | Rebecca Whittington reviewed gene: MT-TL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy v1.45 | MT-TL1 | Ellen McDonagh Source South West GLH was added to MT-TL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy v1.23 | MT-TL1 |
Ellen McDonagh gene: MT-TL1 was added gene: MT-TL1 was added to Hypertrophic cardiomyopathy - teen and adult. Sources: Expert Review Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL Added comment: This gene was suggested by Dr Atsuko Okazaki (Division of Genomic Medicine Research, Medical Genomics Center, National Center for Global Health and Medicine, Tokyo, Japan) to be added to this panel. Comments from Dr Atsuko Okazaki: "Among our ~2000 patients, certain numbers of hypertrophic cardiomyopathy patients have m.3243A>G mutation in MT-TL1 with high heteroplasty rate in the heart. Although reporting mitochondrial DNA mutations with their pathogenicity is always challenging due to the heteroplasty rate in affected organs, I think it might be one possibility to let clinicians know that m.3243A>G is a causative mutation for hypertrophic cardiomyopathy if mutation rate is high in the heart." Sources: Expert Review |