Genomics England

FDXR

ferredoxin reductase

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 7.19	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.48	BIALLELIC, autosomal or pseudoautosomal	Phenotypes FDXR-related optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 6.163	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 7.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Auditory neuropathy and optic atrophy, OMIM:617717, Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 8.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Auditory neuropathy and optic atrophy, OMIM:617717, Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887
Green in Monogenic hearing loss Component of the following Super Panels: - Paediatric disorders R-numbers: R67 Signed-off version 4.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Auditory neuropathy and optic atrophy, OMIM:617717, Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887
Green in Optic neuropathy R-numbers: R41 Signed-off version 4.40	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Auditory neuropathy and optic atrophy, OMIM:617717, Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.113	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Auditory neuropathy and optic atrophy, OMIM:617717, Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887