Ataxia and cerebellar anomalies - childhood onset
Gene: FXNEnsemblGeneIds (GRCh38): ENSG00000165060
EnsemblGeneIds (GRCh37): ENSG00000165060
OMIM: 606829, Gene2Phenotype
FXN is in 18 panels
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Details
- Mode of Inheritance
- 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
- OMIM
- 606829
- Clinvar variants
- Variants in FXN
- Penetrance
- None
- Panels with this gene
-
- Ataxia and cerebellar anomalies - childhood onset
- Hereditary spastic paraplegia, adult onset
- Hereditary spastic paraplegia, childhood onset
- Undiagnosed metabolic disorders
- Hereditary ataxia
- Hypertrophic cardiomyopathy
- Neurodegenerative disorders, adult onset
- Intellectual disability
- Possible mitochondrial disorder, nuclear genes
- Optic neuropathy
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary spastic paraplegia
- Hereditary neuropathy
- Hereditary ataxia, adult onset
- DDG2P
- Mitochondrial disorders
- Hereditary neuropathy or pain disorder
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag nucleotide-repeat-expansion tag was added to gene: FXN.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: FXN were changed from Friedreichataxia,229300Friedreichataxiawithretainedreflexes,229300 to Friedreich ataxia OMIM:229300; Friedreich ataxia with retained reflexes OMIM:229300; Friedreich ataxia 1 MONDO:0100340
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: FXN was added gene: FXN was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FXN were set to Friedreichataxia,229300Friedreichataxiawithretainedreflexes,229300