GALK1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Bilateral congenital or childhood onset cataracts

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Neonatal cholestasis

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

• Cholestasis

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• galactokinase deficiency

  0.84

• junctional epidermolysis bullosa with pyloric atresia

  0.54

• Junctional epidermolysis bullosa - pyloric atresia

  0.54

• epidermolysis bullosa, junctional 5A, intermediate

  0.52

• galactosemia

  0.46

• Localized epidermolysis bullosa simplex

  0.35

• junctional epidermolysis bullosa, non-Herlitz type

  0.35

• epidermolysis bullosa simplex 1C, localized

  0.35

• junctional epidermolysis bullosa

  0.27

• Hypercholesterolemia

  0.23

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

Protein function (UniProt)