Possible mitochondrial disorder - nuclear genes
Gene: FDX2Comment on phenotypes: New phenotype added to OMIM on 25th March 2019.Created: 23 May 2019, 1:51 p.m.
Updated information and Green review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 3 unrelated familties; iron sulfur pathwayCreated: 10 May 2019, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
No OMIM phenotype
Publications
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
No OMIM phenotype
Publications
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
added new-gene-name tagCreated: 9 Dec 2016, 2:20 p.m.
single mutation report in literatureCreated: 4 Feb 2016, 2:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.Created: 10 May 2019, 1:40 p.m.
Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.Created: 29 Mar 2019, 4:02 p.m.
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.
Phenotypes for gene: FDX2 were changed from Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900 to Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900; mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714
Phenotypes for gene: FDX2 were changed from No OMIM phenotype to Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900
Gene: fdx2 has been classified as Green List (High Evidence).
Gene: fdx2 has been classified as Green List (High Evidence).
Gene: fdx2 has been classified as Amber List (Moderate Evidence).
gene: FDX2 was added gene: FDX2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FDX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FDX2 were set to 30010796; 28803783; 24281368 Phenotypes for gene: FDX2 were set to No OMIM phenotype