Possible mitochondrial disorder - nuclear genes
Gene: FDXR
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
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.
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
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