1. Genes and Genomic Entities
  2. FDXR

FDXR

ferredoxin reductase
OMIM: 103270, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green FDXR in Optic neuropathy

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.30
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Auditory neuropathy and optic atrophy, 617717
Green FDXR in Likely inborn error of metabolism - targeted testing not possible


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

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
    • Literature
    • Expert Review
    • Expert list
    Phenotypes
    • Auditory neuropathy and optic atrophy 617717
    Green FDXR in Possible mitochondrial disorder - nuclear genes


    Version 3.106
    Latest signed off version: v3.105 (1 May 2024)

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

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.41
    Latest signed off version: v4.39 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Auditory neuropathy and optic atrophy, OMIM:617717
    Red FDXR in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review Not set
    Sources
    • Victorian Clinical Genetics Services
    Green FDXR in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 6.4
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Auditory neuropathy and optic atrophy 617717
    Red FDXR in Childhood onset dystonia, chorea or related movement disorder


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green FDXR in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Auditory neuropathy and optic atrophy, 617717