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| Mitochondrial disease v0.1073 | MT-TV | Zornitza Stark Phenotypes for gene: MT-TV were changed from Ataxia; Seizures; Deafness to Mitochondrial disease (MONDO:0044970), MT-TV-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1072 | MT-TV | Zornitza Stark Publications for gene: MT-TV were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1071 | MT-TV | Zornitza Stark edited their review of gene: MT-TV: Changed publications: 9450773, 12056939, 19252805, 15320572, 18314141, 24691472, 39468830 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1071 | MT-TV |
Zornitza Stark edited their review of gene: MT-TV: Added comment: DEFINITIVE by ClinGen. At least 8 individuals reported. Age of onset in affected individuals ranged from childhood to adulthood. Clinical features in affected individuals included LSS, cognitive decline, fatigue, migraines, seizures, myoclonic jerks, ataxia, dystonia, dysarthria, imbalance, muscle weakness, axonal sensorimotor polyneuropathy, diabetes, gastrointestinal dysmotility, cataracts, retinitis pigmentosa, sensorineural hearing loss, and hypertrophic cardiomyopathy. Brain imaging was variable and ranged from normal to findings consistent with LSS, cerebellar and cerebral atrophy, brainstem atrophy, and basal ganglia calcifications. Muscle biopsies showed ragged red fibers, COX-deficient fibers, and normal to decreased respiratory chain enzyme activities. Metabolic laboratory investigations revealed elevated lactate. Heteroplasmy levels in affected individuals were highest in muscle when multiple tissues were assessed (67% to homoplasmic in muscle, 70% to homoplasmic in blood, and homoplasmic in skin fibroblasts).; Changed publications: 9450773, 12056939, 19252805, 15320572, 18314141, 24691472; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TV-related |
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| Mitochondrial disease v0.963 | MT-TV | Zornitza Stark edited their review of gene: MT-TV: Added comment: PMID 39468830: multiplex family with spastic paraplegia and homoplasmic variant, m.1661A > G; Changed publications: 39468830; Changed phenotypes: Ataxia, Seizures, Deafness, Spastic paraplegia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.426 | MT-TV | Zornitza Stark Tag mtDNA tag was added to gene: MT-TV. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.426 | MT-TV | Zornitza Stark Marked gene: MT-TV as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.426 | MT-TV | Zornitza Stark Gene: mt-tv has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.426 | MT-TV | Zornitza Stark Classified gene: MT-TV as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.426 | MT-TV | Zornitza Stark Gene: mt-tv has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.425 | MT-TV |
Zornitza Stark gene: MT-TV was added gene: MT-TV was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene gene: MT-TV was set to MITOCHONDRIAL Phenotypes for gene: MT-TV were set to Ataxia; Seizures; Deafness Review for gene: MT-TV was set to GREEN Added comment: Sources: Expert list |
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