LPIN2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Autoinflammatory disorders

  BIALLELIC, autosomal or pseudoautosomal

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• Cytopenias and congenital anaemias

  BIALLELIC, autosomal or pseudoautosomal

• Periodic fever syndromes

  BIALLELIC, autosomal or pseudoautosomal

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

• Rare anaemia

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Majeed syndrome

  0.80

• congenital dyserythropoietic anemia

  0.46

• microcytic anemia

  0.46

• neurodegenerative disease

  0.42

• autoinflammatory syndrome

  0.38

• hypopituitarism

  0.29

• polymyalgia rheumatica

  0.27

• lung cancer

  0.26

• hereditary disease

  0.19

• chronic laryngitis

  0.11

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

Protein function (UniProt)