GBE1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Acute rhabdomyolysis

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset leukodystrophy

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset neurodegenerative disorder

  BIALLELIC, autosomal or pseudoautosomal

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

• Congenital myopathy

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• glycogen storage disease due to glycogen branching enzyme deficiency

  0.85

• adult polyglucosan body disease

  0.80

• glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form

  0.71

• glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form

  0.59

• disorder of glycogen metabolism

  0.57

• hereditary disease

  0.51

• glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form

  0.51

• glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form

  0.51

• glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form

  0.51

• fetal akinesia deformation sequence

  0.46

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

Protein function (UniProt)