FBXL4

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

• 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 disorders

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial DNA maintenance disorder

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• mitochondrial DNA depletion syndrome 13

  0.83

• Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies

  0.77

• Leigh syndrome

  0.60

• neurodegenerative disease

  0.56

• hereditary disease

  0.53

• mitochondrial DNA depletion syndrome

  0.41

• alcohol drinking

  0.40

• mitochondrial disease

  0.40

• inborn mitochondrial metabolism disorder

  0.37

• Neurodevelopmental delay

  0.34

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

Protein function (UniProt)