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| Hereditary Neuropathy - complex v0.68 | FDX2 | Zornitza Stark Marked gene: FDX2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.68 | FDX2 | Zornitza Stark Gene: fdx2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.68 | FDX2 | Zornitza Stark Classified gene: FDX2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.68 | FDX2 | Zornitza Stark Gene: fdx2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.67 | FDX2 |
Crystle Lee gene: FDX2 was added gene: FDX2 was added to Hereditary Neuropathy - complex. Sources: Expert Review Mode of inheritance for gene: FDX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FDX2 were set to 30010796; 24281368; 28803783 Phenotypes for gene: FDX2 were set to Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy (MIM#251900) Review for gene: FDX2 was set to AMBER Added comment: Gene previously known as FDX1L. Limited evidence (1 family) suporting neuropathy being a feature of the associated condition PMID: 30010796: Reported same variant in 2 apparently unrelated Brazilian families. Axonal sensori-motor polyneuropathy reported in 4 out of the 6 patients. OMIM notes that peripheral neuropathy has onset in the second decade. Sources: Expert Review |
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