TCN2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• Cytopenias and congenital anaemias

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

• Rare anaemia

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• transcobalamin II deficiency

  0.81

• Transcobalamin deficiency

  0.79

• Pancytopenia

  0.63

• agammaglobulinemia

  0.54

• Decreased total neutrophil count

  0.50

• neutropenia

  0.50

• Failure to thrive

  0.50

• Thrombocytopenia

  0.50

• vitamin B12 deficiency

  0.49

• megaloblastic anemia

  0.48

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

Protein function (UniProt)