Rhabdomyolysis and metabolic muscle disorders
Gene: FDX2
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 2:55 p.m. | Last Modified: 1 Feb 2023, 2:55 p.m.
Panel Version: 2.5
Additional individual in PMID: 35079622Created: 19 Mar 2022, 8:24 a.m. | Last Modified: 19 Mar 2022, 8:24 a.m.
Panel Version: 1.78
Publications
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).Created: 17 Aug 2021, 3:38 p.m. | Last Modified: 17 Aug 2021, 3:38 p.m.
Panel Version: 1.50
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 17 Aug 2021, 3:35 p.m. | Last Modified: 17 Aug 2021, 3:35 p.m.
Panel Version: 1.50
Three unrelated cases reported with rhabdomyolysis/myoglobinuria.
Sources: Expert listCreated: 7 Oct 2020, 10:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MIM#251900
Publications
Tag Q3_21_rating was removed from gene: FDX2.
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)
Tag Q3_21_rating tag was added to gene: FDX2.
Gene: fdx2 has been classified as Amber List (Moderate Evidence).
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
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
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