SGCE

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset dystonia, chorea or related movement disorder

  MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

• Childhood onset dystonia, chorea or related movement disorder

  MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

• Early onset dystonia

  MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

• Adult onset neurodegenerative disorder

  MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Parkinson Disease and Complex Parkinsonism

  MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

Disease associations (Open Targets)

• myoclonus-dystonia syndrome

  0.76

• hereditary disease

  0.47

• movement disorder

  0.27

• luminal A breast carcinoma

  0.26

• schizophrenia

  0.17

• insomnia

  0.13

• Unverricht-Lundborg disease

  0.09

• Young adult-onset Parkinsonism

  0.09

• Hereditary late-onset Parkinson disease

  0.09

• Progressive myoclonic epilepsy

  0.09

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

Protein function (UniProt)