SLC25A26

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  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

• Pyruvate dehydrogenase (PDH) deficiency

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• combined oxidative phosphorylation defect type 15

  0.77

• atrial fibrillation

  0.46

• hereditary disease

  0.41

• inborn mitochondrial metabolism disorder

  0.37

• mitochondrial disease

  0.37

• facial morphology

  0.31

• hypertrophic cardiomyopathy

  0.26

• Pathologic fracture

  0.26

• placental retention

  0.25

• urolithiasis

  0.20

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

Protein function (UniProt)