Hereditary neuropathy or pain disorder
Gene: FDXREnsemblGeneIds (GRCh38): ENSG00000161513
EnsemblGeneIds (GRCh37): ENSG00000161513
OMIM: 103270, Gene2Phenotype
FDXR is in 10 panels
3 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.
Panel Version: 6.148
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Arina Puzriakova (Genomics England Curator)
Comment on list classification: New gene added to this panel by Alexander Rossor (UCL Institute of Neurology). 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 sensorimotor peripheral polyneuropathy in more than 20% of patients. In most cases peripheral neuropathy manifests in late stages of disease but presentation since clinical onset has also been described. Other common features include optic neuropathy (93.2%) and acoustic neuropathy (50%).Created: 23 Oct 2024, 3:18 p.m. | Last Modified: 23 Oct 2024, 3:18 p.m.
Panel Version: 5.69
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887
- OMIM
- 103270
- Clinvar variants
- Variants in FDXR
- Penetrance
- Complete
- 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, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green was removed from gene: FDXR. Tag Q3_24_NHS_review was removed from gene: FDXR.
Added New Source, Added New Source, Status Update
Sarah Leigh (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)
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_24_promote_green tag was added to gene: FDXR. Tag Q3_24_NHS_review tag was added to gene: FDXR.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: fdxr has been classified as Amber List (Moderate Evidence).
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: FDXR were set to 37046037: 30250212 :
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: FDXR were changed from optic neuropathy; auditory neuropathy; peripheral neuropathy to Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Alexander Rossor (UCL Institute of Neurology)gene: FDXR was added gene: FDXR was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: FDXR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FDXR were set to 37046037: 30250212 : Phenotypes for gene: FDXR were set to optic neuropathy; auditory neuropathy; peripheral neuropathy Penetrance for gene: FDXR were set to Complete Review for gene: FDXR was set to GREEN