L1CAM

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• 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

• Familial Hirschsprung Disease

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

• Fetal anomalies

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

• Hereditary spastic paraplegia

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

• Hydrocephalus

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

• Intellectual disability

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

• Paediatric pseudo-obstruction syndrome

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

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Disease associations (Open Targets)

• Hydrocephalus with stenosis of the aqueduct of Sylvius

  0.85

• X-linked hydrocephalus with stenosis of the aqueduct of Sylvius

  0.84

• MASA syndrome

  0.83

• X-linked complicated corpus callosum dysgenesis

  0.76

• L1 syndrome

  0.72

• Spastic paraplegia

  0.57

• hereditary disease

  0.52

• Partial agenesis of the corpus callosum

  0.46

• X-linked complicated spastic paraplegia type 1

  0.38

• neurodegenerative disease

  0.35

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

Protein function (UniProt)