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Rhabdomyolysis and Metabolic Myopathy

Gene: FDX2

Green List (high evidence)
FDX2 (ferredoxin 2)
EnsemblGeneIds (GRCh38): ENSG00000267673
EnsemblGeneIds (GRCh37): ENSG00000267673
OMIM: 614585, Gene2Phenotype
FDX2 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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.
Created: 24 Apr 2022, 6:53 a.m. | Last Modified: 24 Apr 2022, 6:53 a.m.
Panel Version: 0.796

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, MIM# 251900; inborn mitochondrial myopathy MONDO:0009637

Publications

Created: 24 Apr 2022, 6:53 a.m.
Last Modified: 24 Apr 2022, 6:53 a.m.
Panel version: Imported from Mitochondrial disease panel version 0.796

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Three unrelated cases reported with rhabdomyolysis/myoglobinuria.
Sources: Literature
Created: 29 May 2020, 3:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MIM#251900

Publications

Created: 29 May 2020, 3:45 a.m.

Panel version: 0.37

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MIM#251900
OMIM
614585
Clinvar variants
Variants in FDX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fdx2 has been classified as Green List (High Evidence).

29 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fdx2 has been classified as Green List (High Evidence).

29 May 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: FDX2 was added gene: FDX2 was added to Rhabdomyolysis RMH. Sources: Literature 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