Hypertrophic cardiomyopathy
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
3 reviews
Rebecca Whittington (South West GLH)
Friedreich ataxia (229300)Created: 25 Mar 2019, 4:30 p.m.
1 report associatedCreated: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Alice Gardham (Genomics England)
Comment on mode of pathogenicity: Most often nucleotide repeat expansion. Tagged 5.12.16 by Alice GardhamCreated: 5 Dec 2016, 11:28 a.m.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- South West GLH
- Expert list
- Phenotypes
-
- Friedreich ataxia, OMIM:229300
- Friedreich ataxia with retained reflexes, OMIM:229300
- Tags
- OMIM
- 606829
- Clinvar variants
- Variants in FXN
- Penetrance
- Complete
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- DDG2P
- Undiagnosed metabolic disorders
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Optic neuropathy
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Childhood onset hereditary spastic paraplegia
- Mitochondrial disorders
- Hereditary spastic paraplegia
- Hypertrophic cardiomyopathy
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Possible mitochondrial disorder - nuclear genes
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
11 Nov 2021, Gel status: 1
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: FXN were changed from syndromic HCM to Friedreich ataxia, OMIM:229300; Friedreich ataxia with retained reflexes, OMIM:229300
21 Feb 2019, Gel status: 1
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to FXN. Mode of inheritance for gene FXN was changed from to BIALLELIC, autosomal or pseudoautosomal
5 Dec 2016, Gel status: 0
Set mode of pathogenicity
Alice Gardham (Genomics England)Mode of pathogenicity for FXN was changed to Other - please provide details in the comments
13 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)FXN was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list