FXN

frataxin
OMIM: 606829, Gene2Phenotype

29 panels

Panel Reviews Mode of inheritance Details
29 panels

Green FXN in Ataxia and cerebellar anomalies - narrow panel


Version 2.24
Signed off v.2.23 on 8 Oct 2020

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Friedreichataxia,229300Friedreichataxiawithretainedreflexes,229300

    Green FXN in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.205

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Friedreichataxia,229300Friedreichataxiawithretainedreflexes,229300
    Tags
    • nucleotide-repeat-expansion

    Red FXN in Hypertrophic cardiomyopathy - teen and adult

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 2.13
    Signed off v.2.11 on 15 Oct 2020

    Component of the following Super Panels:

  • Sudden cardiac death
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • Expert list
    Phenotypes
    • syndromic HCM
    Tags
    • nucleotide-repeat-expansion

    Red FXN 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 Red
    • London North GLH
    Phenotypes
    • Friedreich ataxia (FRDA), 229300

    Green FXN in Hereditary spastic paraplegia - childhood onset


    Version 2.19
    Signed off v.2.18 on 8 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Friedreich ataxia, 229300

    Green FXN in Hereditary spastic paraplegia - adult onset


    Version 1.13
    Signed off v.1.12 on 15 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Friedreich ataxia, 229300

    Red FXN in Neurodegenerative disorders - adult onset


    Version 2.32
    Signed off v.2.31 on 8 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Friedreichataxia,229300Friedreichataxiawithretainedreflexes,229300
    Tags
    • nucleotide-repeat-expansion

    Green FXN in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.425

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Friedreich ataxia, 229300
    • Friedreich ataxia with retained reflexes, 229300
    • Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))

    Green FXN in Inborn errors of metabolism


    Version 2.24
    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
    • London North GLH
    • NHS GMS
    Phenotypes
    • Friedreich ataxia, 229300
    • Friedreich ataxia with retained reflexes, 229300
    • Hereditary ataxia
    • Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))

    Red FXN in Possible mitochondrial disorder - nuclear genes


    Version 1.17
    Signed off v.1.16 on 15 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Friedreich ataxia, 229300

    Green FXN in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.377

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • South West GLH
    • NHS GMS
    • London North GLH
    • Emory Genetics Laboratory
    Phenotypes
    • Hereditary Neuropathies
    • Friedreich ataxia, 229300

    Red FXN in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.500
    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 Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Friedreich ataxia 229300
    • Friedreich ataxia with retained reflexes 229300
    Tags
    • nucleotide-repeat-expansion

    Red FXN 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 Red
    • Victorian Clinical Genetics Services
    • Radboud University Medical Center, Nijmegen
    • Expert
    Phenotypes
    • Friedreich ataxia, 229300
    • Friedreich ataxia with retained reflexes, 229300

    Green FXN in Hereditary ataxia - adult onset


    Version 2.14
    Signed off v.2.13 on 6 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Friedreichataxia, 229300
    • Friedreich ataxia, 229300
    • Friedreich ataxia with retained reflexes,229300
    Tags
    • nucleotide-repeat-expansion

    Amber FXN in Hereditary neuropathy NOT PMP22 copy number


    Version 1.9
    Signed off v.1.2 on 27 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • South West GLH
    • Emory Genetics Laboratory
    • London North GLH
    • NHS GMS
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Hereditary Neuropathies
    • Friedreich ataxia, 229300

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


    Version 1.62
    Signed off v.1.58 on 6 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Friedreich ataxia
    • Friedreich ataxia with retained reflexes, 229300

    Green FXN in Severe Paediatric Disorders


    Version 1.12

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Friedreich ataxia with retained reflexes, 229300
    • Friedreich ataxia, 229300

    Green FXN_GAA STR in Ataxia and cerebellar anomalies - narrow panel


    Version 2.24
    Signed off v.2.23 on 8 Oct 2020

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Friedreich ataxia 229300
    Tags
    • STR

    Green FXN_GAA STR in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.205

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Friedreich ataxia 229300
    Tags
    • STR

    No list FXN_GAA STR in Hypertrophic cardiomyopathy - teen and adult

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 2.13
    Signed off v.2.11 on 15 Oct 2020

    Component of the following Super Panels:

  • Sudden cardiac death
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • Expert list
    Phenotypes
    • Friedreich ataxia 229300
    Tags
    • STR

    Green FXN_GAA STR in Hereditary spastic paraplegia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.217

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Friedreich ataxia 229300
    Tags
    • STR

    Green FXN_GAA STR in Hereditary spastic paraplegia - childhood onset


    Version 2.19
    Signed off v.2.18 on 8 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Friedreich ataxia 229300
    Tags
    • STR

    Green FXN_GAA STR in Hereditary spastic paraplegia - adult onset


    Version 1.13
    Signed off v.1.12 on 15 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • South West GLH
    • London North GLH
    • Expert Review Green
    • Expert list
    Phenotypes
    • Friedreich ataxia 229300
    Tags
    • STR

    Amber FXN_GAA STR in Neurodegenerative disorders - adult onset


    Version 2.32
    Signed off v.2.31 on 8 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Yorkshire and North East GLH
    • Expert list
    Phenotypes
    • Friedreich ataxia 229300
    Tags
    • STR
    • for-review

    Green FXN_GAA STR in Inborn errors of metabolism


    Version 2.24
    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
    • Expert list
    Phenotypes
    • Friedreich ataxia 229300
    Tags
    • STR

    Green FXN_GAA STR in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.377

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Friedreich ataxia 229300
    Tags
    • STR

    No list FXN_GAA STR in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.500
    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 Removed
    • Expert list
    Phenotypes
    • Friedreich ataxia 229300
    Tags
    • STR

    Red FXN_GAA STR 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 Red
    • Expert Review
    Phenotypes
    • Friedreich ataxia 229300
    Tags
    • STR

    Green FXN_GAA STR in Hereditary ataxia - adult onset


    Version 2.14
    Signed off v.2.13 on 6 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Friedreich ataxia 229300
    Tags
    • STR