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| Mitochondrial disease v0.799 | FDX2 | Zornitza Stark Marked gene: FDX2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.799 | FDX2 | Zornitza Stark Gene: fdx2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.799 | FDX2 | Zornitza Stark Phenotypes for gene: FDX2 were changed from to Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, MIM# 251900; inborn mitochondrial myopathy MONDO:0009637 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.798 | FDX2 | Zornitza Stark Publications for gene: FDX2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.797 | FDX2 | Zornitza Stark Mode of inheritance for gene: FDX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.796 | FDX2 | Zornitza Stark commented on gene: FDX2: 6 apparently unrelated families with 3 different homozygous variants (c.1A>T; p.Pro144Leu; p.Met4Ile) with a rhabdomyolysis/mitochondrial myopathy phenotype. Molecular investigation of patient cells demonstrates mitochondrial dysfunction. Only 2 families with p.Pro144Leu have been reported with the additional features of optic atrophy and reversible leukoencephalopathy. The phenotype reported in OMIM is mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, but there is limited evidence that optic atrophy and leukoencephalopathy are prominent features of the phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.796 | FDX2 | Zornitza Stark reviewed gene: FDX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24281368, 28803783, 30010796, 35079622, 34905296; Phenotypes: Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, MIM# 251900, inborn mitochondrial myopathy MONDO:0009637; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.0 | FDX2 |
Zornitza Stark gene: FDX2 was added gene: FDX2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: FDX2 was set to Unknown |
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