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  3. FDXR
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Ataxia - adult onset

Gene: FDXR

Amber List (moderate evidence)
FDXR (ferredoxin reductase)
EnsemblGeneIds (GRCh38): ENSG00000161513
EnsemblGeneIds (GRCh37): ENSG00000161513
OMIM: 103270, Gene2Phenotype
FDXR is in 11 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Ataxia is not a reported feature of the phenotype for this condition.
Sources: Expert list
Created: 16 Jan 2020, 5:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Auditory neuropathy and optic atrophy, 617717

Created: 16 Jan 2020, 5:54 a.m.

Panel version: 0.6

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Multiple reports of individuals with extra-ocular features, including ID and regression; microcephaly. Ataxia reported in multiple individuals, though largely paediatric.
Created: 14 Jul 2024, 3:57 a.m. | Last Modified: 14 Jul 2024, 3:57 a.m.
Panel Version: 1.12
Emerging gene: ataxia with onset in the setting of intercurrent illness described in one individual so far.
Created: 27 Dec 2019, 5:01 a.m. | Last Modified: 27 Dec 2019, 6:10 a.m.
Panel Version: 0.86

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Auditory neuropathy and optic atrophy, MIM#617717; Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887

Publications

Created: 27 Dec 2019, 5:01 a.m.
Last Modified: 14 Jul 2024, 3:57 a.m.
Panel version: 1.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Auditory neuropathy and optic atrophy, 617717
  • Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887
OMIM
103270
Clinvar variants
Variants in FDXR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jul 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fdxr has been classified as Amber List (Moderate Evidence).

14 Jul 2024, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FDXR were changed from Auditory neuropathy and optic atrophy, 617717 to Auditory neuropathy and optic atrophy, 617717; Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887

14 Jul 2024, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FDXR were set to

14 Jul 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fdxr has been classified as Amber List (Moderate Evidence).

16 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: FDXR was added gene: FDXR was added to Ataxia - adult onset_RMH. Sources: Expert list 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 Review for gene: FDXR was set to RED