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FDXR

ferredoxin reductase
OMIM: 103270, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green FDXR in Ataxia and cerebellar anomalies - childhood onset Level 2: Neurology Version 9.26 Latest signed off version: v9.22 (12 Aug 2026) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies, childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887
Green FDXR in Optic neuropathy Level 2: Ophthalmology Version 6.47 Latest signed off version: v6.46 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Auditory neuropathy and optic atrophy, OMIM:617717 Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887
Green FDXR in Likely inborn error of metabolism Level 2: Metabolic Version 9.30 Latest signed off version: v9.29 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Expert list Phenotypes Auditory neuropathy and optic atrophy, OMIM:617717 Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887
Green FDXR in Possible mitochondrial disorder, nuclear genes Level 2: Mitochondrial Version 5.18 Latest signed off version: v5.17 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Green Expert list Phenotypes Auditory neuropathy and optic atrophy, OMIM:617717 Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887
Green FDXR in DDG2P Version 8.1 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FDXR-related optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
Green FDXR in Monogenic hearing loss Level 2: Audiology Version 6.41 Latest signed off version: v6.34 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Auditory neuropathy and optic atrophy, OMIM:617717 Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887
Red FDXR in Intellectual disability Level 2: Developmental disorders Version 11.9 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	Not set	Sources Victorian Clinical Genetics Services
Green FDXR in Mitochondrial disorders Level 2: Mitochondrial Version 10.19 Latest signed off version: v10.18 (12 Aug 2026) Component of the following Super Panels: Leukodystrophy, childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Auditory neuropathy and optic atrophy, OMIM:617717 Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887
Green FDXR in Hereditary neuropathy or pain disorder Level 2: Neurology Version 8.31 Latest signed off version: v8.30 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887
Red FDXR in Dystonia, chorea or related movement disorder, childhood onset Level 2: Neurology Version 8.14 Latest signed off version: v8.13 (12 Aug 2026)	review	Not set	Sources Expert Review Red London North GLH