FOXRED1

FAD dependent oxidoreductase domain containing 1
OMIM: 613622, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Red FOXRED1 in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.81

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia

Red FOXRED1 in Hypertrophic cardiomyopathy - teen and adult

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 2.1

Component of the following Super Panels:

  • Sudden cardiac death
  • review Unknown
    Sources
    • South West GLH
    • Expert list
    Phenotypes
    • syndromic HCM

    Green FOXRED1 in Mitochondrial disorder with complex I deficiency


    Version 1.3
    Signed off v.1.2 on 17 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 19, 618241

    Red FOXRED1 in Neurodegenerative disorders - adult onset


    Version 2.1
    Signed off v.2.0 on 11 Dec 2019

    review Unknown
    Sources
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review Red
    Phenotypes
    • Dystonia

    Green FOXRED1 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.413

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
    • Isolated complex I deficiency
    • Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010
    • Mitochondrial Diseases
    • Mitochondrial Respiratory Chain Complex I Deficiency

    Green FOXRED1 in Inborn errors of metabolism


    Version 2.4
    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
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mitochondrial Diseases
    • Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010
    • Isolated complex I deficiency
    • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
    • Mitochondrial Respiratory Chain Complex I Deficiency

    Green FOXRED1 in Possible mitochondrial disorder - nuclear genes


    Version 1.14
    Signed off v.1.13 on 17 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 19, 618241

    Green FOXRED1 in Fetal anomalies


    Version 1.3
    Signed off v.1.2 on 17 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MITOCHONDRIAL COMPLEX I DEFICIENCY

    Green FOXRED1 in DDG2P


    Version 2.3
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MITOCHONDRIAL COMPLEX I DEFICIENCY 252010

    Amber FOXRED1 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.3
    Signed off v.2.2 on 13 Feb 2020

    review Not set
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Amber
    • Victorian Clinical Genetics Services

    Green FOXRED1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.3
    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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • MITOCHONDRIAL COMPLEX I DEFICIENCY

    Green FOXRED1 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.5
    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
    • Victorian Clinical Genetics Services
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Expert
    Phenotypes
    • Isolated complex I deficiency
    • Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010
    • Mitochondrial Diseases
    • Mitochondrial Respiratory Chain Complex I Deficiency

    Red FOXRED1 in Adult onset movement disorder


    Version 1.1
    Signed off v.1.0 on 29 Nov 2019

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 19, 618241
    • Dystonia

    Amber FOXRED1 in Cardiomyopathies - including childhood onset


    Version 1.5
    Signed off v.1.4 on 19 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • MetBioNet
    • NHS GMS
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 19, 618241

    Green FOXRED1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.3
    Signed off v.1.2 on 25 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 19, 618241