LAMA2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

• Congenital muscular dystrophy

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

  BIALLELIC, autosomal or pseudoautosomal

• Malformations of cortical development

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic hearing loss

Disease associations (Open Targets)

• Congenital muscular dystrophy type 1A

  0.82

• congenital merosin-deficient muscular dystrophy 1A

  0.82

• muscular dystrophy, limb-girdle, autosomal recessive 23

  0.78

• LAMA2-related muscular dystrophy

  0.71

• congenital muscular dystrophy

  0.65

• congenital muscular dystrophy due to LMNA mutation

  0.61

• laminin alpha 2-related dystrophy

  0.58

• hereditary disease

  0.54

• Abnormality of the musculature

  0.52

• eye disorder

  0.50

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

Protein function (UniProt)

Diseases associated with LAMA2

Curated MONDO disease pages that list LAMA2 among their top associated genes.

• eye disorderRare