1. Genes and Genomic Entities
  2. FDX2

FDX2

ferredoxin 2
OMIM: 614585, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Red FDX2 in Genomic imprinting


Version 0.149

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Literature
Green FDX2 in Rhabdomyolysis and metabolic muscle disorders

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.48
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900
    • mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714
    Green FDX2 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.617

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900
    • mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714
    Green FDX2 in Likely inborn error of metabolism - targeted testing not possible


    Version 4.137
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900
    • mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714
    Green FDX2 in Possible mitochondrial disorder - nuclear genes


    Version 3.105
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900
    • mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714
    Green FDX2 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.169
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Radboud University Medical Center, Nijmegen
    • Expert
    Phenotypes
    • Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900
    • mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714
    Green FDX2 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900
    • mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714
    Green FDX2 in Acute rhabdomyolysis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.18
    Latest signed off version: v1.7 (31 May 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, OMIM:251900