SPR

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Brain channelopathy

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset dystonia

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Neurotransmitter disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• dopa-responsive dystonia due to sepiapterin reductase deficiency

  0.83

• Dystonia

  0.55

• dystonic disorder

  0.54

• hereditary disease

  0.41

• Intellectual disability

  0.34

• vaginal disorder

  0.23

• Urethral stricture

  0.12

• neuroblastoma

  0.08

• hepatocellular carcinoma

  0.08

• autism

  0.06

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

Protein function (UniProt)