This Panel is marked as Internal
Sudden cardiac death - previous panel
Gene: FXN
FXN (frataxin)
EnsemblGeneIds (GRCh38): ENSG00000165060
EnsemblGeneIds (GRCh37): ENSG00000165060
OMIM: 606829, Gene2Phenotype
FXN is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000165060
EnsemblGeneIds (GRCh37): ENSG00000165060
OMIM: 606829, Gene2Phenotype
FXN is in 18 panels
1 review
Ellen McDonagh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- London South GLH
- London South GLH
- 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
-
- Hereditary ataxia with onset in adulthood
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Hereditary ataxia
- Optic neuropathy
- Hereditary neuropathy or pain disorder
- Childhood onset hereditary spastic paraplegia
- Hypertrophic cardiomyopathy
- Likely inborn error of metabolism
- Hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy
- Adult onset hereditary spastic paraplegia
History Filter Activity
9 Sep 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Ivone Leong (Genomics England Curator)gene: FXN was added gene: FXN was added to Sudden cardiac death. Sources: London South GLH,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; 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)) Mode of pathogenicity for gene: FXN was set to Other - please provide details in the comments