B4GALT7

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital disorders of glycosylation

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Ehlers Danlos syndrome with a likely monogenic cause

  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

• Osteogenesis imperfecta

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Ehlers-Danlos syndrome, progeroid type

  0.81

• Ehlers-Danlos syndrome, spondylodysplastic type

  0.70

• spondylodysplastic Ehlers-Danlos syndrome

  0.46

• Ehlers-Danlos syndrome

  0.42

• hereditary disease

  0.41

• skeletal dysplasia

  0.37

• Lethal skeletal dysplasia

  0.37

• Larsen-like syndrome, B3GAT3 type

  0.26

• hepatocellular carcinoma

  0.07

• neoplasm

  0.03

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

Protein function (UniProt)