PanelApp
  1. Genes and Genomic Entities
  2. FXN

FXN

frataxin
OMIM: 606829, ClinGen, DECIPHER

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green FXN in Hypertrophic cardiomyopathy_HCM


Level 2: Cardiovascular disorders
Version 1.20

Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Friedreich ataxia MIM#229300

    Green FXN in Mendeliome


    Version 1.3795

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    Phenotypes
    • Friedreich ataxia MONDO:0100339

    Green FXN in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.1275

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    Phenotypes
    • Friedreich ataxia, MIM# 229300

    Green FXN in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.600

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green FXN in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.304

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

    Green FXN in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.160

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

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

    Green FXN in Hereditary Spastic Paraplegia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.129

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Friedreich ataxia, 229300
    Tags
    • SV/CNV
    • STR

    Green FXN in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.45

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Friedreich ataxia, MIM# 229300
    Tags
    • STR

    Green FXN in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Friedreich ataxia

    Red FXN in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Friedreich ataxia MONDO:0100339

    Green FXN_FRDA_GAA STR in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.1275

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

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

    Green FXN_FRDA_GAA STR in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.160

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

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

    Green FXN_FRDA_GAA STR in Hereditary Spastic Paraplegia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.129

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

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

    Green FXN_FRDA_GAA STR in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.45

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

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

    Green FXN_FRDA_GAA STR in Repeat Disorders


    Version 0.269

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Friedreich ataxia MIM#229300
    Tags
    • paediatric-onset