BCAP31

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 dystonia

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

• Fetal anomalies

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

• Inherited white matter disorders

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

• Intellectual disability

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

• White matter disorders and cerebral calcification - narrow panel

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

• Adult onset dystonia, chorea or related movement disorder

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

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Disease associations (Open Targets)

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

  0.75

• adrenoleukodystrophy

  0.58

• hereditary disease

  0.52

• CADDS

  0.46

• neurodegenerative disease

  0.43

• X-linked cerebral adrenoleukodystrophy

  0.27

• hypertensive disorder

  0.15

• Global developmental delay

  0.12

• peroxisome biogenesis disorder 2B

  0.12

• Seizure

  0.12

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

Protein function (UniProt)