LGI3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects

  0.70

• neurodegenerative disease

  0.24

• peripheral neuropathy

  0.21

• cardiovascular disorder

  0.18

• placental abruption

  0.18

• non-small cell lung carcinoma

  0.09

• glioma

  0.08

• central nervous system cancer

  0.08

• gonorrhea

  0.08

• vitiligo

  0.08

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

Protein function (UniProt)