G6PC3

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

• Cytopenia - NOT Fanconi anaemia

  BIALLELIC, autosomal or pseudoautosomal

• Cytopenias and congenital anaemias

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Infantile enterocolitis & monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• autosomal recessive severe congenital neutropenia due to G6PC3 deficiency

  0.86

• severe congenital neutropenia

  0.65

• immunodeficiency disease

  0.34

• hereditary disease

  0.19

• neurodegenerative disease

  0.19

• infection

  0.07

• autosomal dominant severe congenital neutropenia

  0.06

• isolated agammaglobulinemia

  0.06

• glioblastoma

  0.06

• autosomal agammaglobulinemia

  0.06

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

Protein function (UniProt)