Auditory Neuropathy
Gene: FXN
FXN (frataxin)
EnsemblGeneIds (GRCh38): ENSG00000165060
EnsemblGeneIds (GRCh37): ENSG00000165060
OMIM: 606829, Gene2Phenotype
FXN is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000165060
EnsemblGeneIds (GRCh37): ENSG00000165060
OMIM: 606829, Gene2Phenotype
FXN is in 12 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Sensorineural hearing loss occurs in ~10% of individuals with FRDA. Auditory neuropathy has been confirmed in at least 4 individuals homozygous for the FXN repeat expansion. Pathogenic SNVs or small indels on one allele with the repeat expansion on the second allele, have been reported as the cause FRDA in ~5% of cases.
Sources: LiteratureCreated: 16 Nov 2020, 2:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Friedreich ataxia MIM#229300
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Friedreich ataxia MIM#229300
- Tags
- OMIM
- 606829
- Clinvar variants
- Variants in FXN
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
16 Nov 2020, Gel status: 3
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: fxn has been classified as Green List (High Evidence).
16 Nov 2020, Gel status: 3
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: fxn has been classified as Green List (High Evidence).
16 Nov 2020, Gel status: 1
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: FXN was added gene: FXN was added to Auditory Neuropathy. Sources: Literature STR tags were added to gene: FXN. Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FXN were set to 18515321; 25791504 Phenotypes for gene: FXN were set to Friedreich ataxia MIM#229300 Review for gene: FXN was set to GREEN