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Deafness_IsolatedAndComplex

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

8 individuals from 4 unrelated families reported, onset of symptoms in first/second decades.
Created: 29 Jan 2020, 12:40 a.m. | Last Modified: 29 Jan 2020, 12:40 a.m.
Panel Version: 0.274

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Auditory neuropathy and optic atrophy, MIM# 617717

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Deafness Flagship
  • 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

29 Jan 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).

29 Jan 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

29 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FDXR were set to

29 Jan 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 Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: FDXR was set to Unknown