This Panel is marked as Deleted
Mitochondrial disorders AD Victorian Clinical Genetics Services
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
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 606829
- Clinvar variants
- Variants in FXN
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Ataxia and cerebellar anomalies - narrow panel
- Optic neuropathy
- Mitochondrial disorders
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Hereditary spastic paraplegia
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy or pain disorder
- Hypertrophic cardiomyopathy
- Hereditary ataxia
- DDG2P
- Adult onset hereditary spastic paraplegia
- Hereditary neuropathy
- Childhood onset hereditary spastic paraplegia
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)FXN was added to Mitochondrial disorders AD Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)FXN was created by Sarah Leigh