Optic Atrophy
Gene: FDXR

FDXR (ferredoxin reductase)
EnsemblGeneIds (GRCh38): ENSG00000161513
EnsemblGeneIds (GRCh37): ENSG00000161513
OMIM: 103270, Gene2Phenotype
FDXR is in 11 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 30250212 -
1 patient with optic atrophy. He was chet for a missense and start-loss variant
1 patient with "diminished size of optic nerves", patient passed away at ~11 months old
Described a different study where mouse models with biallelic missense resulted in optic atrophy

PMID: 28965846 - 8 patients from 4 different families (different ethnic backgrounds), all patients had bilateral optic atrophy
Created: 15 Apr 2020, 1:19 a.m. | Last Modified: 15 Apr 2020, 1:19 a.m.

Panel Version: 0.60

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Auditory neuropathy and optic atrophy

Publications

PMID: 30250212
28965846

Created: 15 Apr 2020, 1:19 a.m.
Last Modified: 15 Apr 2020, 1:19 a.m.
Panel version: 0.60

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Auditory neuropathy and optic atrophy, MIM#617717

OMIM

103270

Clinvar variants

Variants in FDXR

Penetrance

None

Publications

Panels with this gene