Undiagnosed metabolic disordersGene: FDX2
Comment on list classification: Based on reviews from Carl Fratter and Zornitza Stark (below).
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).
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.
Created: 30 Sep 2019, 1:16 p.m. | Last Modified: 30 Sep 2019, 1:16 p.m.
Panel Version: 1.357
Created: 30 Sep 2019, 1:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy 251900
Gene: fdx2 has been classified as Green List (High Evidence).
gene: FDX2 was added gene: FDX2 was added to Undiagnosed metabolic disorders. Sources: Literature Mode of inheritance for gene: FDX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FDX2 were set to 24281368; 28803783; 30010796 Phenotypes for gene: FDX2 were set to Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy 251900 Review for gene: FDX2 was set to GREEN