GPD1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Familial chylomicronaemia syndrome (FCS)

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Severe hypertriglyceridaemia

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

• Familial hypercholesterolaemia

Disease associations (Open Targets)

• transient infantile hypertriglyceridemia and hepatosteatosis

  0.75

• neurodegenerative disease

  0.44

• hereditary disease

  0.38

• breast carcinoma

  0.10

• breast cancer

  0.10

• neoplasm

  0.09

• cancer

  0.09

• nonpapillary renal cell carcinoma

  0.08

• urinary bladder carcinoma

  0.07

• urinary bladder cancer

  0.07

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

Protein function (UniProt)