FDXR

ferredoxin reductase
OMIM: 103270, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green FDXR in Inborn errors of metabolism


Version 2.2

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert Review
    • Expert list
    Phenotypes
    • Auditory neuropathy and optic atrophy 617717

    Green FDXR in Possible mitochondrial disorder - nuclear genes


    Version 1.12

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert Review Green
    • Expert list
    Phenotypes
    • Auditory neuropathy and optic atrophy, 617717

    Red FDXR in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.0

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review Not set
    Sources
    • Victorian Clinical Genetics Services

    Green FDXR in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.3

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Auditory neuropathy and optic atrophy 617717

    Red FDXR in Childhood onset dystonia or chorea or related movement disorder


    Version 1.0

    review Not set
    Sources
    • Expert Review Red
    • London North GLH