PGM3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital disorders of glycosylation

  BIALLELIC, autosomal or pseudoautosomal

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  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

• Severe multi-system atopic disease with high IgE

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• immunodeficiency 23

  0.84

• severe combined immunodeficiency

  0.63

• combined immunodeficiency

  0.46

• hyper-IgE syndrome

  0.46

• hereditary disease

  0.41

• Immunodeficiency

  0.37

• immunodeficiency disease

  0.37

• immune system disorder

  0.37

• Intellectual disability

  0.37

• allergic rhinitis

  0.13

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

Protein function (UniProt)