LAMB2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Proteinuric renal disease

  BIALLELIC, autosomal or pseudoautosomal

• Structural eye disease

  BIALLELIC, autosomal or pseudoautosomal

• Unexplained kidney failure in young people

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Congenital myaesthenic syndrome

  BIALLELIC, autosomal or pseudoautosomal

• Corneal abnormalities

  BIALLELIC, autosomal or pseudoautosomal

• Fetal hydrops

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• LAMB2-related infantile-onset nephrotic syndrome

  0.81

• Pierson syndrome

  0.80

• nephrotic syndrome

  0.50

• eye disorder

  0.43

• Synaptic congenital myasthenic syndromes

  0.38

• synaptic congenital myasthenic syndrome

  0.38

• Abnormal retinal morphology

  0.37

• bacterial infectious disease

  0.37

• macular holes

  0.35

• hereditary disease

  0.34

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

Protein function (UniProt)