NLRP12

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

• Monogenic hearing loss

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Periodic fever syndromes

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Primary immunodeficiency or monogenic inflammatory bowel disease

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• familial cold autoinflammatory syndrome 2

  0.72

• NLRP12-associated hereditary periodic fever syndrome

  0.64

• autoinflammatory syndrome

  0.40

• COVID-19

  0.37

• Sensorineural hearing impairment

  0.37

• sensorineural hearing loss disorder

  0.37

• Rare pervasive developmental disorder

  0.27

• CINCA syndrome

  0.23

• hereditary disease

  0.19

• obesity disorder

  0.13

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

Protein function (UniProt)