FXN

frataxin
OMIM: 606829, Gene2Phenotype

30 panels

Panel Reviews Mode of inheritance Details
30 panels
Green FXN in Ataxia and cerebellar anomalies - narrow panel


Version 5.6
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Friedreich ataxia OMIM:229300
    • Friedreich ataxia with retained reflexes OMIM:229300
    • Friedreich ataxia 1 MONDO:0100340
    Tags
    • nucleotide-repeat-expansion
    Green FXN in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.332

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Friedreich ataxia OMIM:229300
    • Friedreich ataxia with retained reflexes OMIM:229300
    • Friedreich ataxia 1 MONDO:0100340
    Tags
    • nucleotide-repeat-expansion
    Red FXN in Hypertrophic cardiomyopathy

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 4.13
    Latest signed off version: v4.8 (1 May 2024)

    Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • Expert list
    Phenotypes
    • Friedreich ataxia, OMIM:229300
    • Friedreich ataxia with retained reflexes, OMIM:229300
    Tags
    • nucleotide-repeat-expansion
    Red FXN 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 Red
    • London North GLH
    Phenotypes
    • Friedreich ataxia, OMIM:229300
    • Friedreich ataxia with retained reflexes, OMIM:229300
    Tags
    • nucleotide-repeat-expansion
    Green FXN in Childhood onset hereditary spastic paraplegia


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

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Friedreich ataxia OMIM:229300
    • Friedreich ataxia with retained reflexes OMIM:229300
    • Friedreich ataxia 1 MONDO:0100340
    Tags
    • nucleotide-repeat-expansion
    Green FXN in Adult onset hereditary spastic paraplegia


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

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Friedreich ataxia OMIM:229300
    • Friedreich ataxia with retained reflexes OMIM:229300
    • Friedreich ataxia 1 MONDO:0100340
    Tags
    • nucleotide-repeat-expansion
    Red FXN in Adult onset neurodegenerative disorder


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

    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
    • Friedreich ataxia, OMIM:229300
    • Friedreich ataxia with retained reflexes, OMIM:229300
    Tags
    • nucleotide-repeat-expansion
    Green FXN in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.620

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Friedreich ataxia, OMIM:229300
    • Friedreich ataxia with retained reflexes, OMIM:229300
    Tags
    • nucleotide-repeat-expansion
    Green FXN in Likely inborn error of metabolism - targeted testing not possible


    Version 5.8
    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
    • London North GLH
    • NHS GMS
    Phenotypes
    • Friedreich ataxia OMIM:229300
    • Friedreich ataxia with retained reflexes OMIM:229300
    • Friedreich ataxia 1 MONDO:0100340
    Tags
    • nucleotide-repeat-expansion
    Red FXN 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 Red
    Phenotypes
    • Friedreich ataxia, OMIM:229300
    • Friedreich ataxia with retained reflexes, OMIM:229300
    Tags
    • nucleotide-repeat-expansion
    Green FXN in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.478

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • South West GLH
    • NHS GMS
    • London North GLH
    • Emory Genetics Laboratory
    Phenotypes
    • Friedreich ataxia OMIM:229300
    • Friedreich ataxia with retained reflexes OMIM:229300
    • Friedreich ataxia 1 MONDO:0100340
    Tags
    • nucleotide-repeat-expansion
    Red FXN in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.26
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Friedreich ataxia, OMIM:229300
    • Friedreich ataxia with retained reflexes, OMIM:229300
    Tags
    • nucleotide-repeat-expansion
    Red FXN in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 6.9
    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 Red
    • Victorian Clinical Genetics Services
    • Radboud University Medical Center, Nijmegen
    • Expert
    Phenotypes
    • Friedreich ataxia, OMIM:229300
    • Friedreich ataxia with retained reflexes, OMIM:229300
    Tags
    • nucleotide-repeat-expansion
    Green FXN in Hereditary ataxia with onset in adulthood


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

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Friedreich ataxia OMIM:229300
    • Friedreich ataxia with retained reflexes OMIM:229300
    • Friedreich ataxia 1 MONDO:0100340
    Tags
    • nucleotide-repeat-expansion
    Amber FXN in Hereditary neuropathy or pain disorder


    Version 4.11
    Latest signed off version: v4.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • South West GLH
    • Emory Genetics Laboratory
    • London North GLH
    • NHS GMS
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Friedreich ataxia, OMIM:229300
    • Friedreich ataxia with retained reflexes, OMIM:229300
    Tags
    • Q2_24_promote_green
    • Q2_24_NHS_review
    • nucleotide-repeat-expansion
    Green FXN in Childhood onset dystonia, chorea or related movement disorder


    Version 4.4
    Latest signed off version: v4.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Friedreich ataxia OMIM:229300
    • Friedreich ataxia with retained reflexes OMIM:229300
    • Friedreich ataxia 1 MONDO:0100340
    Tags
    • nucleotide-repeat-expansion
    Green FXN in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Friedreich ataxia OMIM:229300
    • Friedreich ataxia with retained reflexes OMIM:229300
    • Friedreich ataxia 1 MONDO:0100340
    Green FXN_GAA STR in Ataxia and cerebellar anomalies - narrow panel


    Version 5.6
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Friedreich ataxia OMIM:229300
    • Friedreich ataxia with retained reflexes OMIM:229300
    • Friedreich ataxia 1 MONDO:0100340
    Tags
    • STR
    Green FXN_GAA STR in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.332

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Friedreich ataxia OMIM:229300
    • Friedreich ataxia with retained reflexes OMIM:229300
    • Friedreich ataxia 1 MONDO:0100340
    Tags
    • STR
    No list FXN_GAA STR in Hypertrophic cardiomyopathy

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 4.13
    Latest signed off version: v4.8 (1 May 2024)

    Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Removed
    • Expert list
    Phenotypes
    • Friedreich ataxia OMIM:229300
    • Friedreich ataxia with retained reflexes OMIM:229300
    • Friedreich ataxia 1 MONDO:0100340
    Tags
    • STR
    • curated_removed
    Green FXN_GAA STR in Hereditary spastic paraplegia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.311

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review
    Phenotypes
    • Friedreich ataxia, OMIM:229300
    • Friedreich ataxia with retained reflexes, OMIM:229300
    Tags
    • STR
    Green FXN_GAA STR in Childhood onset hereditary spastic paraplegia


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

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Friedreich ataxia, OMIM:229300
    • Friedreich ataxia with retained reflexes, OMIM:229300
    Tags
    • STR
    Green FXN_GAA STR in Adult onset hereditary spastic paraplegia


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

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • South West GLH
    • London North GLH
    • Expert Review Green
    • Expert list
    Phenotypes
    • Friedreich ataxia, OMIM:229300
    • Friedreich ataxia with retained reflexes, OMIM:229300
    Tags
    • STR
    Amber FXN_GAA STR in Adult onset neurodegenerative disorder


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

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    • Yorkshire and North East GLH
    • Expert list
    Phenotypes
    • Friedreich ataxia, OMIM:229300
    • Friedreich ataxia with retained reflexes, OMIM:229300
    Tags
    • STR
    • watchlist
    Green FXN_GAA STR in Likely inborn error of metabolism - targeted testing not possible


    Version 5.8
    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
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Friedreich ataxia OMIM:229300
    • Friedreich ataxia with retained reflexes OMIM:229300
    • Friedreich ataxia 1 MONDO:0100340
    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 1.478

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review
    Phenotypes
    • Friedreich ataxia, OMIM:229300
    • Friedreich ataxia with retained reflexes, OMIM:229300
    Tags
    • STR
    No list FXN_GAA STR in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.26
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Removed
    • Expert list
    Phenotypes
    • Friedreich ataxia OMIM:229300
    • Friedreich ataxia with retained reflexes OMIM:229300
    • Friedreich ataxia 1 MONDO:0100340
    Tags
    • STR
    • curated_removed
    Red FXN_GAA STR in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 6.9
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    • Expert Review
    Phenotypes
    • Friedreich ataxia, OMIM:229300
    • Friedreich ataxia with retained reflexes, OMIM:229300
    Tags
    • STR
    Green FXN_GAA STR in Hereditary ataxia with onset in adulthood


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

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Friedreich ataxia, OMIM:229300
    • Friedreich ataxia with retained reflexes, OMIM:229300
    Tags
    • STR
    Green FXN_GAA STR in Childhood onset dystonia, chorea or related movement disorder


    Version 4.4
    Latest signed off version: v4.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Friedreich ataxia OMIM:229300
    • Friedreich ataxia with retained reflexes OMIM:229300
    • Friedreich ataxia 1 MONDO:0100340
    Tags
    • STR