Mitochondrial disorders
Gene: FDXREnsemblGeneIds (GRCh38): ENSG00000161513
EnsemblGeneIds (GRCh37): ENSG00000161513
OMIM: 103270, Gene2Phenotype
FDXR is in 10 panels
2 reviews
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)
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
-
- 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
- Complete
- Publications
- Panels with this gene
-
- Monogenic hearing loss
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy or pain disorder
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Optic neuropathy
- Mitochondrial disorders
History Filter Activity
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
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: fdxr has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: FDXR were changed from Auditory neuropathy and optic atrophy, MIM#617717 to Auditory neuropathy and optic atrophy 617717
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: fdxr has been classified as Green List (High Evidence).
Added New Source
Zornitza Stark (Australian Genomics)FDXR was added to Mitochondrial disorders panel. Sources: Expert list
Created
Zornitza Stark (Australian Genomics)FDXR was created by Zornitza Stark