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| Rhabdomyolysis and metabolic muscle disorders v2.5 | FDX2 | Arina Puzriakova Tag Q3_21_rating was removed from gene: FDX2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v2.5 | FDX2 | Arina Puzriakova reviewed gene: FDX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v2.4 | FDX2 |
Arina Puzriakova Source Expert Review Green was added to FDX2. Source NHS GMS was added to FDX2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Rhabdomyolysis and metabolic muscle disorders v1.78 | FDX2 | Dmitrijs Rots reviewed gene: FDX2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35079622; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v1.50 | FDX2 | Sarah Leigh Tag Q3_21_rating tag was added to gene: FDX2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v1.50 | FDX2 | Sarah Leigh edited their review of gene: FDX2: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least three variants reported in three unrelated cases that included rhabdomyolysis (PMID: 24281368; 30010796; 28803783).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v1.50 | FDX2 | Sarah Leigh Classified gene: FDX2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v1.50 | FDX2 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v1.50 | FDX2 | Sarah Leigh Gene: fdx2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v1.49 | FDX2 | Sarah Leigh Phenotypes for gene: FDX2 were changed from Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900; mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714 to Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900; mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v1.49 | FDX2 | Sarah Leigh Phenotypes for gene: FDX2 were changed from Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MIM#251900 to Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900; mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v1.42 | FDX2 |
Zornitza Stark gene: FDX2 was added gene: FDX2 was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert list Mode of inheritance for gene: FDX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FDX2 were set to 24281368; 30010796; 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 GREEN Added comment: Three unrelated cases reported with rhabdomyolysis/myoglobinuria. Sources: Expert list |
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