1. Genes and Genomic Entities
  2. FXN

FXN

frataxin
OMIM: 606829, Gene2Phenotype

31 panels

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


Level 2: Neurology
Version 8.63
Latest signed off version: v8.0 (30 Apr 2025)

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 1.344

    		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 2: Cardiology
    Version 5.29
    Latest signed off version: v5.0 (30 Apr 2025)

    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 2: Ophthalmology
    Version 5.48
    Latest signed off version: v5.0 (30 Apr 2025)

    		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


    Level 2: Neurology
    Version 8.30
    Latest signed off version: v8.0 (30 Apr 2025)

    		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


    Level 2: Neurology
    Version 6.7
    Latest signed off version: v6.0 (30 Apr 2025)

    		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


    Level 2: Neurology
    Version 8.11
    Latest signed off version: v8.0 (30 Apr 2025)

    		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 1.642

    		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


    Level 2: Metabolic
    Version 8.91
    Latest signed off version: v8.0 (30 Apr 2025)

    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


    Level 2: Mitochondrial
    Version 4.20
    Latest signed off version: v4.0 (30 Apr 2025)

    		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 DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • FXN-related Friedreich ataxia
    Green FXN in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.506

    		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 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    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 2: Mitochondrial
    Version 9.41
    Latest signed off version: v9.0 (30 Apr 2025)

    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


    Level 2: Neurology
    Version 8.23
    Latest signed off version: v8.0 (30 Apr 2025)

    		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
    Green FXN in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 7.36
    Latest signed off version: v7.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • 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
    • nucleotide-repeat-expansion
    Green FXN in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		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_GAA STR in Ataxia and cerebellar anomalies - narrow panel


    Level 2: Neurology
    Version 8.63
    Latest signed off version: v8.0 (30 Apr 2025)

    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 1.344

    		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 2: Cardiology
    Version 5.29
    Latest signed off version: v5.0 (30 Apr 2025)

    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 1.316

    		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


    Level 2: Neurology
    Version 8.30
    Latest signed off version: v8.0 (30 Apr 2025)

    		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


    Level 2: Neurology
    Version 6.7
    Latest signed off version: v6.0 (30 Apr 2025)

    		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


    Level 2: Neurology
    Version 8.11
    Latest signed off version: v8.0 (30 Apr 2025)

    		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


    Level 2: Metabolic
    Version 8.91
    Latest signed off version: v8.0 (30 Apr 2025)

    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 1.506

    		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 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    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 2: Mitochondrial
    Version 9.41
    Latest signed off version: v9.0 (30 Apr 2025)

    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


    Level 2: Neurology
    Version 8.23
    Latest signed off version: v8.0 (30 Apr 2025)

    		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 Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 7.36
    Latest signed off version: v7.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Friedreich ataxia, OMIM:229300
    • Friedreich ataxia 1, MONDO:0100340
    Tags
    • STR
    Green FXN_GAA STR in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		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