PNP

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

• Severe combined immunodeficiency with PNP deficiency

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

• Intellectual disability

Disease associations (Open Targets)

• purine nucleoside phosphorylase deficiency

  0.82

• severe combined immunodeficiency

  0.63

• combined immunodeficiency

  0.47

• T-B+ severe combined immunodeficiency

  0.46

• T-B- severe combined immunodeficiency

  0.46

• mature T-cell and NK-cell non-Hodgkin lymphoma

  0.38

• hereditary disease

  0.19

• gout

  0.11

• primary cutaneous T-cell non-Hodgkin lymphoma

  0.11

• B-cell chronic lymphocytic leukemia

  0.11

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

Protein function (UniProt)