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| Mitochondrial disease v0.1031 | MT-ND5 | Zornitza Stark Phenotypes for gene: MT-ND5 were changed from Mitochondrial complex I deficiency; Leber's optic neuropathy; MERFF to Mitochondrial disease (MONDO:0044970), MT-ND5-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1030 | MT-ND5 | Zornitza Stark Publications for gene: MT-ND5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1029 | MT-ND5 |
Zornitza Stark edited their review of gene: MT-ND5: Added comment: DEFINITIVE by ClinGen. More than 20 individuals reported. Two variants are recurrent (m.13513G>A and m.13094T>C). Affected individuals present with a broad phenotypic spectrum of disease including Leber Hereditary Optic Neuropathy (LHON); mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS); LSS; myoclonus epilepsy, ragged red fibers (MERRF); and cardiomyopathy. The age of onset is also highly variable, ranging from infantile to adult. Muscle biopsies variably revealed ragged red fibers, isolated complex I deficiency, and variable combined deficiencies of complexes I, III, and/or IV. Metabolic screening investigations showed elevated lactate in cerebrospinal fluid (CSF) and blood and urinary excretion of Krebs cycle intermediates. Heteroplasmy levels in affected individuals ranged from 28% - 90% in skeletal muscle, 23% to 77% in blood, undetectable to 90% in fibroblasts, 51% - 81% in urine; and ranged in healthy family members from undetectable to 20% in blood, undetectable to 25% to 95% in hair follicles, undetectable to 4-6% muscle, and ranged from 27%-45% in other tissues such as urine and buccal samples in healthy family members.; Changed publications: 17400793, 11938446, 12624137, 18495510, 23918514, 17535832, 29506874, 23034978, 16816025, 9299505, 18977334; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-ND5-related |
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| Mitochondrial disease v0.1003 | MTERF3 |
Zornitza Stark gene: MTERF3 was added gene: MTERF3 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: MTERF3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTERF3 were set to 40543543 Phenotypes for gene: MTERF3 were set to Mitochondrial disease (MONDO:0044970), MTERF3-related Review for gene: MTERF3 was set to AMBER Added comment: Two individuals reported from unrelated families, presenting with DD/ID, intermittent hypoglycaemia and metabolic acidosis. Genetic testing identified compound heterozygous variants c.635dup p.(Asn212Lysfs*7) and c.1055C > T p.(Pro352Leu) in Patient 1, and a homozygous variant c.943A > Gp.(Met315Val) in Patient 2. Patient's fibroblasts and MTERF3 knockdown cells showed impaired mitochondrial respiration and reduced levels of OXPHOS complexes I, III, and IV. Transcription of MT-ND5, ND6, COII, and COIII was reduced, while other mitochondrial genes were upregulated. Wild-type MTERF3 expression restored these defects, but the variant Pro352Leu from patient failed to rescue mitochondrial dysfunction. Sources: Literature |
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| Mitochondrial disease v0.383 | MT-ND5 | Zornitza Stark Tag mtDNA tag was added to gene: MT-ND5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.383 | MT-ND5 | Zornitza Stark Marked gene: MT-ND5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.383 | MT-ND5 | Zornitza Stark Gene: mt-nd5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.383 | MT-ND5 | Zornitza Stark Classified gene: MT-ND5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.383 | MT-ND5 | Zornitza Stark Gene: mt-nd5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.382 | MT-ND5 |
Zornitza Stark gene: MT-ND5 was added gene: MT-ND5 was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene gene: MT-ND5 was set to MITOCHONDRIAL Phenotypes for gene: MT-ND5 were set to Mitochondrial complex I deficiency; Leber's optic neuropathy; MERFF Review for gene: MT-ND5 was set to GREEN Added comment: Sources: Expert list |
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