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Molecular autopsy

Gene: FXN

Amber List (moderate evidence)
FXN (frataxin)
EnsemblGeneIds (GRCh38): ENSG00000165060
EnsemblGeneIds (GRCh37): ENSG00000165060
OMIM: 606829, Gene2Phenotype
FXN is in 18 panels

1 review

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.
Created: 20 Feb 2019, 2:17 p.m.

Panel version: 0.86

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London South GLH
  • Expert Review Amber
Phenotypes
  • Hereditary ataxia
  • syndromic HCM
  • Friedreich ataxia, 229300
  • Friedreich ataxia with retained reflexes, 229300
  • Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
OMIM
606829
Clinvar variants
Variants in FXN
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

20 Feb 2019, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to FXN.

23 Jan 2019, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: FXN were changed from Hereditary ataxia; syndromic HCM; Friedreich ataxia, 229300Friedreich ataxia with retained reflexes, 229300; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) to Hereditary ataxia; syndromic HCM; Friedreich ataxia, 229300; Friedreich ataxia with retained reflexes, 229300; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))

20 Dec 2018, Gel status: 2

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: FXN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

20 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: fxn has been classified as Amber List (Moderate Evidence).

20 Dec 2018, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Red was added to FXN. Mode of inheritance for gene FXN was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown Added phenotypes Friedreich ataxia, 229300Friedreich ataxia with retained reflexes, 229300 for gene: FXN Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

20 Dec 2018, Gel status: 2

Set mode of pathogenicity, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for gene FXN was changed from to Other - please provide details in the comments Added phenotypes syndromic HCM; Friedreich ataxia, 229300Friedreich ataxia with retained reflexes, 229300; Hereditary ataxia; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: FXN

20 Dec 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: FXN was added gene: FXN was added to Molecular autopsy. Sources: Expert Review Amber Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FXN were set to 27604308 Phenotypes for gene: FXN were set to Hereditary ataxia; Friedreich ataxia, 229300Friedreich ataxia with retained reflexes, 229300; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))