LGI4

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Congenital myopathy

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Hypomyelination neuropathy - arthrogryposis

  0.73

• Neurogenic arthrogryposis multiplex congenita

  0.72

• arthrogryposis multiplex congenita

  0.59

• hypomyelination neuropathy-arthrogryposis syndrome

  0.37

• hereditary disease

  0.34

• arthrogryposis multiplex congenita 2, neurogenic type

  0.34

• fetal akinesia deformation sequence 1

  0.33

• Hodgkins lymphoma

  0.26

• Guillain-Barre syndrome, familial

  0.09

• retinal degeneration

  0.09

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

Protein function (UniProt)