FOXRED1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorder with complex I deficiency

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• mitochondrial complex I deficiency

  0.78

• mitochondrial complex I deficiency, nuclear type 19

  0.74

• Leigh syndrome

  0.66

• mitochondrial disease

  0.65

• mitochondrial complex I deficiency, nuclear type 1

  0.63

• inborn mitochondrial metabolism disorder

  0.60

• hereditary disease

  0.52

• Leigh syndrome with cardiomyopathy

  0.50

• maternally-inherited Leigh syndrome

  0.50

• Mitochondrial encephalopathy

  0.35

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

Protein function (UniProt)