FDXR

ferredoxin reductase
OMIM: 103270, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Amber FDXR in Optic neuropathy

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.27
Signed off v.2.2 on 19 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Auditory neuropathy and optic atrophy, 617717
Tags
  • for-review

Green FDXR in Inborn errors of metabolism


Version 2.22
Signed off v.2.3 on 17 Feb 2020

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 1.16
    Signed off v.1.13 on 17 Feb 2020

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

    Amber FDXR in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.94
    Signed off v.2.5 on 13 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Auditory neuropathy and optic atrophy, MIM# 617717
    Tags
    • for-review

    Red FDXR in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.363
    Signed off v.3.2 on 13 Feb 2020

    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 2.8
    Signed off v.2.4 on 17 Feb 2020

    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 1.57
    Signed off v.1.48 on 20 Aug 2020

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

    Green FDXR in Severe Paediatric Disorders


    Version 1.11

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