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Possible mitochondrial disorder - nuclear genes

Gene: FDXR

Green List (high evidence)

FDXR (ferredoxin reductase)
EnsemblGeneIds (GRCh38): ENSG00000161513
EnsemblGeneIds (GRCh37): ENSG00000161513
OMIM: 103270, Gene2Phenotype
FDXR is in 8 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Auditory neuropathy and optic atrophy, 617717

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in 3 unrelated cases.
Created: 18 Dec 2018, 12:55 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

8 patients from 4 unrelated families reported with bi-allelic variants in this gene, which encodes a mitochondrial flavoprotein.
Created: 29 Aug 2018, 7:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Auditory neuropathy and optic atrophy, MIM#617717

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Auditory neuropathy and optic atrophy, 617717
OMIM
103270
Clinvar variants
Variants in FDXR
Penetrance
None
Panels with this gene

History Filter Activity

4 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: FDXR was added gene: FDXR was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FDXR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FDXR were set to Auditory neuropathy and optic atrophy, 617717