Genomics England
GMS Panels
Panels
Genes and Entities

FDXR

ferredoxin reductase
OMIM: 103270
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FDXR-related optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
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 6.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Auditory neuropathy and optic atrophy 617717
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 7.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Auditory neuropathy and optic atrophy 617717
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.51
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Auditory neuropathy and optic atrophy, OMIM:617717
Green
in Optic neuropathy
R-numbers: R41
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Auditory neuropathy and optic atrophy, 617717
Green
in Possible mitochondrial disorder - nuclear genes
R-numbers: R63
Signed-off version 3.105
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Auditory neuropathy and optic atrophy, 617717