RAB39B

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset dystonia, chorea or related movement disorder

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• 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

• Intellectual disability

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

• Parkinson Disease and Complex Parkinsonism

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Structural basal ganglia disorders

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

• Adult onset neurodegenerative disorder

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Fetal anomalies

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

Disease associations (Open Targets)

• early-onset parkinsonism-intellectual disability syndrome

  0.77

• Early-onset parkinsonism - intellectual disability

  0.74

• X-linked non-syndromic intellectual disability

  0.69

• non-syndromic X-linked intellectual disability

  0.37

• neurodevelopmental disorder

  0.27

• developmental disability

  0.27

• hereditary disease

  0.18

• Parkinson disease

  0.09

• Lewy body dementia

  0.08

• diffuse large B-cell lymphoma

  0.08

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

Protein function (UniProt)