SLC19A3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  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

• Pyruvate dehydrogenase (PDH) deficiency

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• biotin-responsive basal ganglia disease

  0.82

• Thiamine-responsive encephalopathy

  0.77

• hereditary disease

  0.49

• Leigh syndrome

  0.37

• Dystonia

  0.37

• Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease

  0.37

• infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome

  0.37

• neurodegenerative disease

  0.35

• peritonitis

  0.27

• Spastic paraplegia

  0.12

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

Protein function (UniProt)