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Mendeliome

Gene: FDX2

Green List (high evidence)

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

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: 21 Apr 2022, 3:28 a.m. | Last Modified: 21 Apr 2022, 3:28 a.m.
Panel Version: 0.13132

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
inborn mitochondrial myopathy MONDO:0009637

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • inborn mitochondrial myopathy MONDO:0009637
OMIM
614585
Clinvar variants
Variants in FDX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

21 Apr 2022, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: FDX2 were changed from to inborn mitochondrial myopathy MONDO:0009637

21 Apr 2022, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: FDX2 were set to

21 Apr 2022, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: FDX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FDX2 was added gene: FDX2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FDX2 was set to Unknown