SLC6A8

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood onset dystonia, chorea or related movement disorder

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• DDG2P

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Early onset or syndromic epilepsy

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Intellectual disability

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Likely inborn error of metabolism

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Undiagnosed metabolic disorders

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Fetal anomalies

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

• creatine transporter deficiency

  0.85

• X-linked creatine transporter deficiency

  0.66

• Intellectual disability

  0.62

• hereditary disease

  0.53

• neurodegenerative disease

  0.52

• cerebral creatine deficiency syndrome

  0.42

• severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

  0.33

• neurodevelopmental disorder

  0.27

• Seizure

  0.27

• Abnormal facial shape

  0.27

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

Protein function (UniProt)