DCAF17

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

• Early onset dystonia

  BIALLELIC, autosomal or pseudoautosomal

• Familial diabetes

  BIALLELIC, autosomal or pseudoautosomal

• Hypogonadotropic hypogonadism

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic diabetes

  BIALLELIC, autosomal or pseudoautosomal

• White matter disorders and cerebral calcification - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Woodhouse-Sakati syndrome

  0.79

• Dystonia

  0.46

• neurodegeneration with brain iron accumulation

  0.41

• neurodegenerative disease

  0.26

• alcohol drinking

  0.26

• urolithiasis

  0.26

• hereditary disease

  0.19

• osteoarthritis, knee

  0.19

• hemiplegia

  0.17

• spermatogenic failure

  0.09

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

Protein function (UniProt)