SCP2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Inherited white matter disorders

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Peroxisomal disorders

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• White matter disorders and cerebral calcification - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset dystonia, chorea or related movement disorder

• Adult onset neurodegenerative disorder

  Unknown

• Childhood onset dystonia, chorea or related movement disorder

  Unknown

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Disease associations (Open Targets)

• Leukoencephalopathy - dystonia - motor neuropathy

  0.71

• sterol carrier protein 2 deficiency

  0.68

• stroke disorder

  0.24

• alcohol drinking

  0.24

• leukodystrophy

  0.12

• Sensorineural hearing impairment

  0.12

• spermatogenic failure

  0.11

• Hyperlipoproteinemia type 1

  0.07

• glycogen storage disease VI

  0.07

• progressive familial intrahepatic cholestasis

  0.07

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

Protein function (UniProt)