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Hearing loss

Gene: FDXR

No list

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

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

8 individuals from 4 unrelated families reported, onset of symptoms in first/second decades.
Sources: Expert list
Created: 29 Jan 2020, 12:41 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
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

29 Jan 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: FDXR was added gene: FDXR was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: FDXR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FDXR were set to 28965846 Phenotypes for gene: FDXR were set to Auditory neuropathy and optic atrophy, MIM# 617717 Review for gene: FDXR was set to GREEN gene: FDXR was marked as current diagnostic