| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.1285 | MTX2 | Zornitza Stark Marked gene: MTX2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1285 | MTX2 | Zornitza Stark Gene: mtx2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1285 | MTX2 | Zornitza Stark Classified gene: MTX2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1285 | MTX2 | Zornitza Stark Gene: mtx2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1284 | MTX2 |
Zornitza Stark gene: MTX2 was added gene: MTX2 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: MTX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTX2 were set to 38250156; 32917887 Phenotypes for gene: MTX2 were set to Mandibuloacral dysplasia progeroid syndrome, MIM# 619127 Review for gene: MTX2 was set to GREEN Added comment: PMID 32917887 reports 7 individuals from 5 unrelated families with autosomal recessive loss‑of‑function MTX2 variants presenting with mandibuloacral dysplasia progeroid syndrome (growth retardation, mandibular hypoplasia, acro‑osteolysis, lipodystrophy, severe hypertension, renal disease). PMID 38250156 reports 2 individuals from 2 unrelated families with autosomal recessive loss‑of‑function MTX2 variants presenting with nephrotic proteinuria, multisystem mitochondrial dysfunction (elevated lactate, growth retardation, cardiomyopathy). Loss of MTX2 in patients' primary fibroblasts led to loss of Metaxin-1 (MTX1) and mitochondrial dysfunction, including network fragmentation and oxidative phosphorylation impairment. Sources: Literature |
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