XYLT2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Bilateral congenital or childhood onset cataracts

  BIALLELIC, autosomal or pseudoautosomal

• Congenital disorders of glycosylation

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

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Disease associations (Open Targets)

• spondylo-ocular syndrome

  0.76

• Pseudoxanthoma elasticum

  0.46

• hereditary disease

  0.45

• osteogenesis imperfecta

  0.19

• autosomal recessive inherited pseudoxanthoma elasticum

  0.15

• nephronophthisis

  0.07

• renal cysts and diabetes syndrome

  0.07

• progressive familial intrahepatic cholestasis

  0.07

• Senior-Boichis syndrome

  0.07

• Isolated polycystic liver disease

  0.06

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

Protein function (UniProt)