Optic Atrophy

Gene: FDXR

Green List (high evidence)

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

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

History Filter Activity

15 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fdxr has been classified as Green List (High Evidence).

15 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FDXR were changed from to Auditory neuropathy and optic atrophy, MIM#617717

15 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FDXR were set to

15 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FDXR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FDXR was added gene: FDXR was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FDXR was set to Unknown