EXT2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult solid tumours for rare disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Congenital disorders of glycosylation

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Multiple exostoses

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• exostoses, multiple, type 2

  0.83

• hereditary multiple exostoses

  0.79

• seizures-scoliosis-macrocephaly syndrome

  0.76

• Multiple osteochondromas

  0.74

• hereditary disease

  0.51

• hereditary multiple osteochondromas

  0.42

• ovarian cancer

  0.38

• carcinoma of liver and intrahepatic biliary tract

  0.37

• esophageal adenocarcinoma

  0.37

• bile duct carcinoma

  0.37

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

Protein function (UniProt)