SLC25A15

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Hyperammonaemia

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

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Disease associations (Open Targets)

• ornithine translocase deficiency

  0.85

• Hyperornithinemia-hyperammonemia-homocitrullinuria

  0.84

• hereditary disease

  0.45

• inflammatory bowel disease

  0.37

• autoimmune disorder of central nervous system

  0.35

• hereditary breast ovarian cancer syndrome

  0.34

• Hereditary breast and ovarian cancer syndrome

  0.34

• cardiac arrhythmia

  0.34

• Hashimoto thyroiditis

  0.27

• neurodegenerative disease

  0.23

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

Protein function (UniProt)