Optic neuropathy
Gene: FDXR

FDXR (ferredoxin reductase)
EnsemblGeneIds (GRCh38): ENSG00000161513
EnsemblGeneIds (GRCh37): ENSG00000161513
OMIM: 103270, Gene2Phenotype
FDXR is in 10 panels

4 reviews

Neringa Jurkute (MD)

Green List (high evidence)

Multiple publications reported multiple families (up to date 34 independent families) with a mitochondrial disease caused by biallelic FDXR variants. Optic atrophy and sensorineural hearing loss were common features observed in affected individuals. Functional work supports pathogenicity and indicates disrupted iron-sulfur biogenesis.
Created: 4 Feb 2021, 10:34 a.m. | Last Modified: 4 Feb 2021, 10:34 a.m.

Panel Version: 2.29

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Optic atrophy and sensorineural hearing loss; mitochondrial disease

Publications

PMID: 28965846, 32499495, 30250212, 33348459, 29040572

Mode of pathogenicity
Other

Created: 4 Feb 2021, 10:34 a.m.
Last Modified: 4 Feb 2021, 10:34 a.m.
Panel version: 2.29

Ivone Leong (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 10:01 a.m. | Last Modified: 8 Mar 2022, 10:01 a.m.

Panel Version: 2.58

Comment on list classification: New gene added by Zornitza Stark.

This gene is associated with a relevant disease in OMIM. PMID: 2499495 describes a FDXR KO mouse model that had progressive optic neuropathy. Based on all the available evidence there is enough evidence to promote this gene to Green status, which will be done at the next major review. Therefore, this gene has been rated as Amber for now.
Created: 14 Jul 2020, 9:34 a.m. | Last Modified: 14 Jul 2020, 9:34 a.m.

Panel Version: 2.16

Created: 14 Jul 2020, 9:34 a.m.
Last Modified: 14 Jul 2020, 9:34 a.m.
Panel version: 2.58

Sara Martins (All Wales Medical Genomics Service)

Green List (high evidence)

Several unrelated families reported with homozygous and compound heterozygous FDXR variants. Optic atrophy is a consistent primary feature although patients also have other clinical features. Some functional evidence showed that FDXR levels are significantly lower in patient fibroblast cells with the p.R392W variant compared to controls.
Created: 23 Jun 2020, 2:16 p.m. | Last Modified: 23 Jun 2020, 2:16 p.m.

Panel Version: 2.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Auditory neuropathy and optic atrophy (MIM 617717)

Publications

PMID: 30250212
PMID: 28965846
PMID: 29040572

Created: 23 Jun 2020, 2:16 p.m.
Last Modified: 23 Jun 2020, 2:16 p.m.
Panel version: 2.3

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Six unrelated families reported with bi-allelic variants in this gene, optic atrophy is a consistent feature.
Sources: Expert list
Created: 16 Apr 2020, 12:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Auditory neuropathy and optic atrophy, MIM#617717

Publications

Created: 16 Apr 2020, 12:24 a.m.

Panel version: 2.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Auditory neuropathy and optic atrophy, OMIM:617717
Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887

OMIM

103270

Clinvar variants

Variants in FDXR

Penetrance

None

Publications

Panels with this gene

History Filter Activity

23 Oct 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: FDXR were changed from Auditory neuropathy and optic atrophy, 617717 to Auditory neuropathy and optic atrophy, OMIM:617717; Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887

8 Mar 2022, Gel status: 3