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| Mitochondrial disease v0.1048 | MT-TG | Zornitza Stark Phenotypes for gene: MT-TG were changed from Cardiomyopathy to Mitochondrial disease (MONDO:0044970), MT-TG-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1047 | MT-TG | Zornitza Stark Publications for gene: MT-TG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1046 | MT-TG |
Zornitza Stark edited their review of gene: MT-TG: Added comment: MODERATE by ClinGen. Four variants reported in at least 6 individuals. Age of onset in affected individuals varied from early in life to the 20s. Clinical features included hypertrophic cardiomyopathy, myopathy, peripheral neuropathy, exercise intolerance, headache, seizures, ataxia, dystonic posturing, optic atrophy, retinal dystrophy, cataracts, and hearing loss. Progressive atrophy and bilateral basal ganglia calcifications were seen on brain imaging. Tissue biopsies identified ragged red fibers and decreased COX histochemical activity in muscle. Lab values showed increased blood lactate and increased creatine kinase. Decreased activities of complexes I, III, and IV were observed in biopsied muscle. Heteroplasmy levels of the variants in affected individuals ranged from 88-92% in muscle, 40-56% in urine, undetectable to 32% in blood, 27% in buccal samples, and was undetectable when assessed in fibroblasts. Single fiber testing and cybrid analysis further supported variant pathogenicity. This gene-disease relationship is also supported by known biochemical function and functional alterations in patient cells (in vitro functional assays demonstrated reduced rates of mitochondrial translation as a result of variants in MT-TG; PMID: 10090480).; Changed publications: 8079988, 9199564, 11971101, 16120360, 32337339, 35432167, 10090480; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TG-related |
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| Mitochondrial disease v0.399 | MT-TG | Zornitza Stark Marked gene: MT-TG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.399 | MT-TG | Zornitza Stark Gene: mt-tg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.399 | MT-TG | Zornitza Stark Tag mtDNA tag was added to gene: MT-TG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.399 | MT-TG | Zornitza Stark Classified gene: MT-TG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.399 | MT-TG | Zornitza Stark Gene: mt-tg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.398 | MT-TG |
Zornitza Stark gene: MT-TG was added gene: MT-TG was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene gene: MT-TG was set to MITOCHONDRIAL Phenotypes for gene: MT-TG were set to Cardiomyopathy Review for gene: MT-TG was set to GREEN Added comment: Sources: Expert list |
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