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Inborn errors of metabolism

Gene: FDX2

Green List (high evidence)

FDX2 (ferredoxin 2)
EnsemblGeneIds (GRCh38): ENSG00000267673
EnsemblGeneIds (GRCh37): ENSG00000267673
OMIM: 614585, Gene2Phenotype
FDX2 is in 6 panels

6 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Based on reviews from Carl Fratter and Zornitza Stark.
Created: 30 Sep 2019, 1:09 p.m. | Last Modified: 30 Sep 2019, 1:09 p.m.
Panel Version: 1.328
Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 3 unrelated familties; iron sulfur pathway.
From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).
Created: 23 May 2019, 1:54 p.m.

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from red to amber, based on the expert review by Zornitza Stark (Australian Genomics) and the literature.

FDX2 is associated with a phenotype in OMIM and not Gene2Phenotype.

PMID: 24281368 describes a patient born of consanguineous Jewish Moroccan patents with episodic mitochondrial myopathy without optic atrophy or reversible leukoencephalopathy. The authors identified a homozygous missense variant in this gene (M1L).

PMID: 30010796 describes 6 patients from 2 apparently unrelated Brazilian familes from the same geographical region with episodic mitochondrial myopathy. All affected individuals had the same homozygous variant (P144L). No haplotype analysis was performed.

As there are only 2 different variants reported in this gene and no haplotype analysis was performed in PMID: 30010796 it was decided that there is currently not enough evidence to promote this gene to green status. However, a watch-list tag has also been put on this gene.
Created: 2 May 2019, 9:24 a.m.
Comment on phenotypes: The phenotype was previously "?Mitochondrial myopathy with lactic acidosis, association with, 255125"; however, this OMIM number corresponds to the gene, ISCU. I have removed this OMIM number and replaced with "Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900".
Created: 1 May 2019, 4:07 p.m.

Zornitza Stark (Australian Genomics)

I don't know

Two additional families reported recently; however, had the same mutation. Consider Amber if not Green.
Created: 29 Aug 2018, 6:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

added new-gene-name tag
Created: 9 Dec 2016, 2:20 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

single mutation report in literature
Created: 4 Feb 2016, 2:26 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Ellen McDonagh (Genomics England Curator)

This gene was submitted as "FDXL1" by an expert, which is likely to correspond to this HGNC-approved symbol.
Created: 1 Jul 2015, 10:46 a.m.

Details

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

History Filter Activity

30 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

30 Sep 2019, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: FDX2 were changed from No OMIM phenotype?Mitochondrial myopathy with lactic acidosis, association with, 255125 to Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy 251900

30 Sep 2019, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: FDX2 were set to

30 Sep 2019, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

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

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: FDX2 was added gene: FDX2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: FDX2 was set to Unknown Phenotypes for gene: FDX2 were set to No OMIM phenotype?Mitochondrial myopathy with lactic acidosis, association with, 255125