FDXR

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic hearing loss

  BIALLELIC, autosomal or pseudoautosomal

• Optic neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

+2 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• auditory neuropathy-optic atrophy syndrome

  0.78

• multiple mitochondrial dysfunctions syndrome 9b

  0.73

• hereditary disease

  0.52

• optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome

  0.49

• congenital adrenal hyperplasia

  0.37

• FDXR-related optic atrophy mitochondrial dysfunction syndrome

  0.37

• auditory neuropathy

  0.27

• phenylketonuria

  0.27

• Retinal dystrophy

  0.14

• optic atrophy

  0.12

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)