Optic neuropathy
Gene: FDXR
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
Mode of pathogenicity
Other
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
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
Six unrelated families reported with bi-allelic variants in this gene, optic atrophy is a consistent feature.
Sources: Expert listCreated: 16 Apr 2020, 12:24 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Auditory neuropathy and optic atrophy, MIM#617717
Publications
Tag for-review was removed from gene: FDXR.
Source Expert Review Green was added to FDXR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: FDXR were set to 30250212; 28965846; 29040572; 32499495
Gene: fdxr has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: FDXR.
Publications for gene: FDXR were set to 30250212; 28965846; 29040572
Phenotypes for gene: FDXR were changed from Auditory neuropathy and optic atrophy, MIM#617717 to Auditory neuropathy and optic atrophy, 617717
Publications for gene: FDXR were set to 30250212; 28965846
gene: FDXR was added gene: FDXR was added to Optic neuropathy. Sources: Expert list Mode of inheritance for gene: FDXR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FDXR were set to 30250212; 28965846 Phenotypes for gene: FDXR were set to Auditory neuropathy and optic atrophy, MIM#617717 Review for gene: FDXR was set to GREEN