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| Mitochondrial disease v0.1105 | MT-CO2 | Zornitza Stark Publications for gene: MT-CO2 were set to 34325999; 30315213; 28521807 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1104 | MT-CO2 |
Zornitza Stark edited their review of gene: MT-CO2: Added comment: DEFINITIVE by ClinGen. At least eight variants (m.7587T>C, m.7671T>A, m.7896G>A, m.7630del, m.8156dup, m.8156del, m.8163A>G, m.8088del) reported in in eight individuals across multiple publications. Single fiber testing further supported the pathogenicity of several of these variants. Age of onset in affected individuals ranged from childhood to the mid-40s. Clinical features included Leigh syndrome, myopathy, muscle wasting, ataxia, epilepsy, stroke-like episodes, global developmental delay, cognitive decline, psychosis, axonal sensorimotor neuropathy, sensorineural hearing loss, retinitis pigmentosa, cataracts, optic atrophy, and left ventricular hypertrophy. Brain imaging was variable and ranged from normal to findings consistent with Leigh syndrome, cerebral and cerebellar atrophy, and agenesis of the corpus callosum. Muscle biopsies showed ragged red fibers, COX-deficient fibers, lipid accumulation, subsarcolemmal accumulation of mitochondria, and complex IV deficiency. Metabolic screening investigations showed elevated lactate. Heteroplasmy levels in affected individuals were highest in muscle when multiple tissues were assessed (56-95% in muscle, undetectable to 67% in blood, 33-49% in buccal, undetectable to 89% in skin fibroblasts, and undetectable to 49% in urine). The mechanism of pathogenicity appears to be loss of function resulting in specific loss of complex IV activity. This gene-disease relationship is also supported by known biochemical function and in vitro functional assays demonstrating altered mitochondrial function as a result of variants in MT-CO2.; Changed publications: 34325999, 30315213, 28521807, 10205264, 10486321, 11558799, 18245391, 23616164, 31167410, 23965802, 30030519 |
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| Mitochondrial disease v0.1016 | MT-CO2 | Zornitza Stark Phenotypes for gene: MT-CO2 were changed from Cytochrome c oxidase deficiency to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1015 | MT-CO2 | Zornitza Stark Publications for gene: MT-CO2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1014 | MT-CO2 | Zornitza Stark edited their review of gene: MT-CO2: Changed phenotypes: Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1014 | MT-CO2 | Zornitza Stark edited their review of gene: MT-CO2: Added comment: Multiple individuals reported with variants in this gene and a range of neurological and neuromuscular presentations consistent with mitochondrial disease.; Changed publications: 34325999, 30315213, 28521807 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.369 | MT-CO2 | Zornitza Stark Tag mtDNA tag was added to gene: MT-CO2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.369 | MT-CO2 | Zornitza Stark Marked gene: MT-CO2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.369 | MT-CO2 | Zornitza Stark Gene: mt-co2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.369 | MT-CO2 | Zornitza Stark Classified gene: MT-CO2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.369 | MT-CO2 | Zornitza Stark Gene: mt-co2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.368 | MT-CO2 |
Zornitza Stark gene: MT-CO2 was added gene: MT-CO2 was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene gene: MT-CO2 was set to MITOCHONDRIAL Phenotypes for gene: MT-CO2 were set to Cytochrome c oxidase deficiency Review for gene: MT-CO2 was set to GREEN Added comment: Sources: Expert list |
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