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| Leukodystrophy - paediatric v0.264 | NDUFV2 | Zornitza Stark Marked gene: NDUFV2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.264 | NDUFV2 | Zornitza Stark Gene: ndufv2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.264 | NDUFV2 | Zornitza Stark Classified gene: NDUFV2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.264 | NDUFV2 | Zornitza Stark Gene: ndufv2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.263 | NDUFV2 |
Michelle Torres gene: NDUFV2 was added gene: NDUFV2 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFV2 were set to 33811136 Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, nuclear type 7 (MIM#618229) Review for gene: NDUFV2 was set to GREEN Added comment: Three missense mutations were identified in 2 unrelated and nonconsanguineous families with progressive cavitating leukoencephalopathy. The 1st family (WGS) has 2 homozygous siblings with p.(Ala183Thr), and 2nd family (WES) has 2 cHet siblings with p.(Leu156His) and p.(C135Ser). Complex I deficiency was confirmed in affected individuals’ fibroblasts and a muscle biopsy. Functional and structural analyses revealed that these mutations affect the structural stability and function of the NDUFV2 protein. Sources: Literature |
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