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| Mitochondrial disease v0.1063 | MT-TQ | Zornitza Stark Phenotypes for gene: MT-TQ were changed from MELAS; deafness; mitochondrial myopathy to Mitochondrial disease (MONDO:0044970), MT-TQ-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1062 | MT-TQ | Zornitza Stark Publications for gene: MT-TQ were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1061 | MT-TQ | Zornitza Stark Classified gene: MT-TQ as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1061 | MT-TQ | Zornitza Stark Gene: mt-tq has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1060 | MT-TQ |
Zornitza Stark edited their review of gene: MT-TQ: Added comment: LIMITED by ClinGen. Three unique variants (m.4332G>A, m.4369_4370insA, m.4381A>G) reported in three probands across 3 publications. Single fiber testing further supported the pathogenicity of several of these variants. Age of onset in affected individuals was five years old, teens, and 20 years old. Clinical features in affected individuals included stroke-like episodes, hearing loss, myopathy, and Leber Hereditary Optic Neuropathy (LHON). Brain imaging was variable. Muscle biopsies showed ragged red fibers and COX-negative fibers. Metabolic screening investigations were only reported in one individual and showed high cerebrospinal fluid (CSF) lactate with normal blood lactate. Heteroplasmy levels in affected individuals were highest in muscle when multiple tissues were assessed (61-87% in muscle).; Changed rating: AMBER; Changed publications: 11171912, 10996779, 17003408, 11335700; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TQ-related |
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| Mitochondrial disease v0.417 | MT-TQ | Zornitza Stark Marked gene: MT-TQ as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.417 | MT-TQ | Zornitza Stark Gene: mt-tq has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.417 | MT-TQ | Zornitza Stark Tag mtDNA tag was added to gene: MT-TQ. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.417 | MT-TQ | Zornitza Stark Classified gene: MT-TQ as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.417 | MT-TQ | Zornitza Stark Gene: mt-tq has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.416 | MT-TQ |
Zornitza Stark gene: MT-TQ was added gene: MT-TQ was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene gene: MT-TQ was set to MITOCHONDRIAL Phenotypes for gene: MT-TQ were set to MELAS; deafness; mitochondrial myopathy Review for gene: MT-TQ was set to GREEN Added comment: Sources: Expert list |
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