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| Mitochondrial disease v0.1050 | MT-TH | Zornitza Stark Phenotypes for gene: MT-TH were changed from Dilated cardiomyopathy; Retinopathy; Deafness; MELAS; MERFF to Mitochondrial disease (MONDO:0044970), MT-TH-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1049 | MT-TH | Zornitza Stark Publications for gene: MT-TH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1048 | MT-TH |
Zornitza Stark edited their review of gene: MT-TH: Added comment: DEFINITIVE by ClinGen. More than 5 individuals reported. Age of onset in affected individuals varied from adolescence to the 40s. Clinical features included stroke-like episodes, seizures, myoclonus, ataxia, optic atrophy, retinal dystrophy, cataracts, hearing loss, hypogonadism, and mood disorder. Cerebellar vermis hypoplasia and signal changes in the basal ganglia, dentate nuclei, temporal lobes, and occipital lobes were seen on brain imaging. Tissue biopsies identified ragged red fibers and COX-negative fibers. Laboratory investigations showed increased blood and cerebrospinal fluid lactate. Decreased activities of complexes I and IV were variably seen in muscle. Heteroplasmy levels of the variants in affected individuals ranged from 81% to homoplasmic in muscle, 33-87% in urine, 1-60% in blood, and undetectable to homoplasmic in fibroblasts. Single fiber testing, cybrid analysis, and Northern blot analysis further supported variant pathogenicity. This gene-disease relationship is also supported by known biochemical function and functional alteration in patient and non-patient cells (in vitro functional assays demonstrated reduced rates of mitochondrial translation as a result of variants in MT-TH; PMID: 24920829, 21704194).; Changed publications: 12682337, 14967777, 15111688, 21704194, 21931169, 23696415, 35092007, 24920829, 21704194; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TH-related |
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| Mitochondrial disease v0.401 | MT-TH | Zornitza Stark Tag mtDNA tag was added to gene: MT-TH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.401 | MT-TH | Zornitza Stark Marked gene: MT-TH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.401 | MT-TH | Zornitza Stark Gene: mt-th has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.401 | MT-TH | Zornitza Stark Classified gene: MT-TH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.401 | MT-TH | Zornitza Stark Gene: mt-th has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.400 | MT-TH |
Zornitza Stark gene: MT-TH was added gene: MT-TH was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene gene: MT-TH was set to MITOCHONDRIAL Phenotypes for gene: MT-TH were set to Dilated cardiomyopathy; Retinopathy; Deafness; MELAS; MERFF Review for gene: MT-TH was set to GREEN Added comment: Sources: Expert list |
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