FXN

30 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 30 panels
Green FXN in Ataxia and cerebellar anomalies - narrow panel Version 4.59 Latest signed off version: v4.0 (22 Mar 2023) 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 4.7 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event	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 4.42 Latest signed off version: v4.0 (22 Mar 2023)	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 3.21 Latest signed off version: v3.14 (31 Jul 2023)	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 4.47 Latest signed off version: v4.34 (31 Jul 2023)	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 1.617	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 4.137 Latest signed off version: v4.0 (22 Mar 2023) 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 3.105 Latest signed off version: v3.0 (22 Mar 2023)	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 1.477	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 - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.531 Latest signed off version: v5.0 (22 Mar 2023) 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 4.168 Latest signed off version: v4.0 (22 Mar 2023) 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 4.31 Latest signed off version: v4.0 (22 Mar 2023)	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 3.92 Latest signed off version: v3.24 (15 May 2023)	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 nucleotide-repeat-expansion
Green FXN in Childhood onset dystonia, chorea or related movement disorder Version 3.75 Latest signed off version: v3.0 (22 Mar 2023)	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 4.59 Latest signed off version: v4.0 (22 Mar 2023) 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 4.7 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event	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 4.42 Latest signed off version: v4.0 (22 Mar 2023)	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 3.21 Latest signed off version: v3.14 (31 Jul 2023)	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 4.47 Latest signed off version: v4.34 (31 Jul 2023)	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 4.137 Latest signed off version: v4.0 (22 Mar 2023) 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 1.477	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 - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.531 Latest signed off version: v5.0 (22 Mar 2023) 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 4.168 Latest signed off version: v4.0 (22 Mar 2023) 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 4.31 Latest signed off version: v4.0 (22 Mar 2023)	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 3.75 Latest signed off version: v3.0 (22 Mar 2023)	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

FXN

30 panels

Green FXN in Ataxia and cerebellar anomalies - narrow panel

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Green FXN in Hereditary ataxia

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Red FXN in Hypertrophic cardiomyopathy

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Red FXN in Optic neuropathy

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Green FXN in Childhood onset hereditary spastic paraplegia

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Green FXN in Adult onset hereditary spastic paraplegia

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Red FXN in Adult onset neurodegenerative disorder

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Green FXN in Undiagnosed metabolic disorders

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Green FXN in Likely inborn error of metabolism - targeted testing not possible

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Phenotypes

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Red FXN in Possible mitochondrial disorder - nuclear genes

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Green FXN in Hereditary neuropathy

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Red FXN in Intellectual disability - microarray and sequencing

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Red FXN in Mitochondrial disorders

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Green FXN in Hereditary ataxia with onset in adulthood

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Amber FXN in Hereditary neuropathy or pain disorder

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

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Green FXN in Severe Paediatric Disorders

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Green FXN_GAA STR in Ataxia and cerebellar anomalies - narrow panel

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Green FXN_GAA STR in Hereditary ataxia

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No list FXN_GAA STR in Hypertrophic cardiomyopathy

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