ZSWIM6

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood onset dystonia, chorea or related movement disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Clefting

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Limb disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Neurological ciliopathies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Rare multisystem ciliopathy disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

• acromelic frontonasal dysostosis

  0.77

• Acromelic frontonasal dysplasia

  0.73

• neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features

  0.66

• Abnormality of the skeletal system

  0.48

• hereditary disease

  0.47

• schizophrenia

  0.47

• mathematical ability

  0.39

• neurodegenerative disease

  0.37

• placental retention

  0.36

• smoking initiation

  0.35

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

Protein function (UniProt)