Ataxia and cerebellar anomalies - narrow panel
Gene: FDXREnsemblGeneIds (GRCh38): ENSG00000161513
EnsemblGeneIds (GRCh37): ENSG00000161513
OMIM: 103270, Gene2Phenotype
FDXR is in 10 panels
1 review
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 24 Feb 2025, 5:10 p.m. | Last Modified: 24 Feb 2025, 5:10 p.m.
Panel Version: 7.18
There is sufficient evidence to promote this gene to Green at the next GMS panel update.
Review by Masnada et al (2023) of 44 individuals from 35 families reported in literature with FDXR variants revealed ataxia in more than 40% of patients. More complex cases also showed cerebellar atrophy/hypoplasia on neuroimaging (13.63%). In most cases neurological signs developed with progression of disease but presentation since clinical onset has also been described. Most common features include optic neuropathy (93.2%) and acoustic neuropathy (50%).
Sources: LiteratureCreated: 23 Oct 2024, 3:29 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Literature
- Phenotypes
-
- Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887
- OMIM
- 103270
- Clinvar variants
- Variants in FDXR
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Optic neuropathy
- Monogenic hearing loss
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_24_promote_green was removed from gene: FDXR.
Added New Source, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source NHS GMS was added to FDXR. Source Expert Review Green was added to FDXR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: fdxr has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: FDXR was added gene: FDXR was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature Q3_24_promote_green tags were added to gene: FDXR. Mode of inheritance for gene: FDXR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FDXR were set to 37046037 Phenotypes for gene: FDXR were set to Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887 Review for gene: FDXR was set to GREEN