SLC22A5

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Acute rhabdomyolysis

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Hyperammonaemia

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Paediatric or syndromic cardiomyopathy

  BIALLELIC, autosomal or pseudoautosomal

• Rhabdomyolysis and metabolic muscle disorders

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Systemic primary carnitine deficiency

  0.87

• systemic primary carnitine deficiency disease

  0.80

• Decreased circulating carnitine concentration

  0.53

• hereditary disease

  0.52

• asthma

  0.49

• inflammatory bowel disease

  0.38

• Crohn disease

  0.36

• chronic rhinosinusitis

  0.36

• Acute rhabdomyolysis

  0.33

• Congenital myasthenic syndromes

  0.33

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

Protein function (UniProt)