PLCG2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Autoinflammatory disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• COVID-19 research

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Primary immunodeficiency or monogenic inflammatory bowel disease

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Gastrointestinal epithelial barrier disorders

• Infantile enterocolitis & monogenic inflammatory bowel disease

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• PLCG2-associated antibody deficiency and immune dysregulation

  0.77

• autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation

  0.72

• familial cold autoinflammatory syndrome 3

  0.69

• venous thromboembolism

  0.57

• Alzheimer disease

  0.54

• deep vein thrombosis

  0.53

• heart disorder

  0.52

• pulmonary embolism

  0.50

• cutaneous leishmaniasis

  0.50

• inflammatory bowel disease

  0.49

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

Protein function (UniProt)

Diseases associated with PLCG2

Curated MONDO disease pages that list PLCG2 among their top associated genes.

• heart disorderRare
• venous thromboembolismRare