PLP1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset hereditary spastic paraplegia

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

• Adult onset leukodystrophy

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

• Childhood onset hereditary spastic paraplegia

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

• DDG2P

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

• Hereditary neuropathy or pain disorder

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

• Hereditary spastic paraplegia

  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

+7 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• Pelizeaus-Merzbacher spectrum disorder

  0.85

• hereditary spastic paraplegia 2

  0.82

• Spastic paraplegia type 2

  0.78

• Sudanophilic leukodystrophy

  0.57

• Pelizaeus-Merzbacher disease, connatal form

  0.52

• hereditary disease

  0.50

• hereditary spastic paraplegia

  0.40

• null syndrome

  0.39

• Spastic paraplegia

  0.39

• Pelizaeus-Merzbacher disease, classic form

  0.39

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

Protein function (UniProt)