GALT

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Bilateral congenital or childhood onset cataracts

  BIALLELIC, autosomal or pseudoautosomal

• Cholestasis

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Neonatal cholestasis

  BIALLELIC, autosomal or pseudoautosomal

• Primary ovarian insufficiency

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• classic galactosemia

  0.86

• galactosemia

  0.78

• hereditary disease

  0.54

• juvenile amyotrophic lateral sclerosis

  0.53

• autosomal recessive distal spinal muscular atrophy 2

  0.53

• primary ovarian failure

  0.34

• carbohydrate metabolism disease

  0.10

• Disorder of carbohydrate metabolism

  0.10

• glaucoma

  0.09

• asthma

  0.08

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

Protein function (UniProt)