B3GALT6

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

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Osteogenesis imperfecta

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures

  0.82

• Ehlers-Danlos syndrome, spondylodysplastic type, 2

  0.80

• spondyloepimetaphyseal dysplasia with joint laxity

  0.72

• Ehlers-Danlos syndrome, progeroid type

  0.71

• Al-Gazali syndrome

  0.67

• Ehlers-Danlos syndrome

  0.56

• Ehlers-Danlos syndrome, spondylodysplastic type

  0.37

• Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia

  0.37

• Disproportionate short stature

  0.37

• B3GALT6-congenital disorder of glycosylation

  0.37

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

Protein function (UniProt)