Likely inborn error of metabolism

Gene: FDX2

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.

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.

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

• 30010796

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

added new-gene-name tag

Created: 9 Dec 2016, 2:20 p.m.

Green List (high evidence)

single mutation report in literature

Created: 4 Feb 2016, 2:26 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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.