SERAC1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset dystonia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Hyperammonaemia

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome

  0.82

• MEGDEL syndrome

  0.72

• hereditary disease

  0.47

• Leigh syndrome

  0.41

• Dystonia

  0.37

• Hypoglycemia

  0.37

• SERAC1-related neurological disorder

  0.27

• mitochondrial oxidative phosphorylation disorder

  0.27

• placental abruption

  0.26

• Sensorineural hearing impairment

  0.18

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

Protein function (UniProt)