SLC25A1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital myaesthenic syndrome

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  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

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• D,L-2-hydroxyglutaric aciduria

  0.83

• Presynaptic congenital myasthenic syndromes

  0.66

• 2-hydroxyglutaric aciduria

  0.51

• hereditary disease

  0.41

• mitochondrial disease

  0.37

• inborn mitochondrial metabolism disorder

  0.37

• presynaptic congenital myasthenic syndrome

  0.37

• neurodegenerative disease

  0.31

• cancer

  0.10

• neoplasm

  0.10

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

Protein function (UniProt)