SLC20A2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset dystonia, chorea or related movement disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Adult onset neurodegenerative disorder

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Childhood onset dystonia, chorea or related movement disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intracerebral calcification disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Structural basal ganglia disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• White matter disorders and cerebral calcification - narrow panel

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• COVID-19 research

  Unknown

• Early onset dystonia

+2 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• bilateral striopallidodentate calcinosis

  0.75

• Basal ganglia calcification

  0.71

• hereditary disease

  0.49

• Dystonia

  0.47

• basal ganglia cerebrovascular disorder

  0.37

• Abnormality of the skeletal system

  0.36

• gout

  0.27

• neurodegenerative disease

  0.25

• Apnea

  0.22

• narcolepsy

  0.19

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

Protein function (UniProt)